The UMD-FBN1 mutations database
Arg to Pro mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg545Pro	c.1634G>C	13	545	cb EGF-like #04		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2366 FRA01BOU F0623 I0660 Male Heterozygous FRANCE NA 207
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01BAL F0002 I01 Female Heterozygous U.S.A NA 1 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
p.Arg1790Pro	c.5369G>C	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 407 BEL01GHE F0042 I1597 Male Heterozygous BELGIUM NA 89 466 GER01BER F0043 I43 Male Heterozygous GERMANY NA 95
p.Arg1832Pro	c.5495G>C	44	1832	cb EGF-like #26	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2274 FRA01BOU F0530 I0567 Female Heterozygous FRANCE NA 207