The UMD-FBN1 mutations database
Leu to Pro mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu643Pro	c.1928T>C	15	643	cb EGF-like #06	conserved AA in cbEGF-like	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1337 FRA01BOU F0324 I0362 Female Heterozygous FRANCE NA 145 2276 FRA01BOU F0532 I0569 Female Heterozygous FRANCE NA 207
p.Leu2780Pro	c.8339T>C	65	2780	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 570 UKD04OXF F0015 I27 NA Heterozygous U.K. NA 88
p.Leu2870Pro	c.8609T>C	65	2870	FibuCTDIII-like motif		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2282 FRA01BOU F0539 I0576 Male Heterozygous FRANCE NA 207