The UMD-FBN1 mutations database
Arg to Trp mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg2282Trp	c.6844C>T	55	2282	cb EGF-like #35		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 132 BEL01GHE F0008 I01 Male Heterozygous BELGIUM NA 89 121 UKD01EDI F0016 I01 Male Heterozygous U.K. NA 41 394 BEL01GHE F0029 I2228 Male Heterozygous BELGIUM NA 89
p.Arg2335Trp	c.7003C>T	57	2335	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 474 GER01BER F0052 I63 Female Heterozygous GERMANY NA 95
p.Arg2554Trp	c.7660C>T	61	2554	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 881 UKD05LON F0089 I01 NA Heterozygous U.K. NA 96
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3356 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282 123 USA05HOU F0002 I01 Male Heterozygous U.S.A Type I 16 348 UKD03DUN F0016 I01 NA Heterozygous U.K. NA 84 728 BEL01GHE F0115 I01 NA Heterozygous BELGIUM NA 122 970 ITA02PAV F0006 I01 NA Heterozygous ITALIA NA 125 1020 FRA01BOU F0302 I0341 Male Heterozygous FRANCE NA 145 1286 FRA01BOU F0133 I0171 Female Heterozygous FRANCE NA 145 1431 UKD05LON F0194 I01 NA Heterozygous U.K. NA 96 1468 FRA01BOU F0332 I0370 Female Heterozygous FRANCE NA 145 1560 ITA01FLO F0086 I01 NA Heterozygous ITALIA NA 146 2040 NET04NIJ F0002 I0001 Male Heterozygous NETHERLAND NA 184 2184 FRA04DIJ F0005 I0001 Male Heterozygous FRANCE NA 256 2192 ITA01FLO F0103 I0001 Male Heterozygous ITALIA NA 97 2370 FRA01BOU F0627 I0664 Female Heterozygous FRANCE NA 207 2660 FRA01BOU F0922 I0958 Male Heterozygous FRANCE NA 207 2692 FRA01BOU F0955 I0991 Male Heterozygous FRANCE NA 207