The UMD-FBN1 mutations database
Arg to Gln mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg529Gln	c.1586G>A	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3354 ITA01FLO F0110 I0001 Male Heterozygous ITALIA NA 282 2451 FRA01BOU F0708 I0745 Male Heterozygous FRANCE NA 207
p.Arg2057Gln	c.6170G>A	50	2057	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 255 USA03STA F0041 I01 NA Heterozygous U.S.A NA 54
p.Arg2414Gln	c.7241G>A	58	2414	cb EGF-like #37		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1853 JAP01YOK F0027 I0001 NA Heterozygous JAPAN NA 149 1854 JAP01YOK F0028 I0001 NA Heterozygous JAPAN NA 149
p.Arg2554Gln	c.7661G>A	61	2554	cb EGF-like #40		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 546 USA04NOR F0021 I3602 Male Heterozygous U.S.A NA 102 3136 GER03HAN F0114 I0001 Female Heterozygous GERMANY NA 243
p.Arg2694Gln	c.8081G>A	64	2694	COOH unique region		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2034 TAI01TAI F0054 I0001 NA Heterozygous TAIWAN NA 183
p.Arg2726Gln	c.8177G>A	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 736 BEL01GHE F0123 I01 NA Heterozygous BELGIUM NA 122