The UMD-FBN1 mutations database
Arg to His mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg240His	c.719G>A	6	240	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2038 NET04NIJ F0003 I0001 Female Heterozygous NETHERLAND NA 184
p.Arg954His	c.2861G>A	24	954	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1957 GER03HAN F0069 I0009 NA Heterozygous GERMANY NA 182 2383 FRA01BOU F0640 I0677 Male Heterozygous FRANCE NA 207 2659 FRA01BOU F0921 I0957 Female Heterozygous FRANCE NA 207
p.Arg976His	c.2927G>A	24	976	TGFBP#03		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1375 UKD05LON F0117 I01 NA Heterozygous U.K. NA 96 3093 UKD09SAL F0014 I0001 NA Heterozygous U.K. NA 242
p.Arg1170His	c.3509G>A	28	1170	cb EGF-like #14		Small rearrangement	Ts	G->A	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 142 UKD03DUN F0004 I01 NA Heterozygous U.K. NA 70 58 UKD01EDI F0004 I01 Female Heterozygous U.K. NA 23 198 USA01BAL F0031 I01 Female Heterozygous U.S.A NA 60 1383 UKD05LON F0146 I01 NA Heterozygous U.K. NA 96 1792 UKD07WIL F0076 I0001 NA Heterozygous U.K. NA 157 1817 GER05DOR F0012 I0001 NA Heterozygous GERMANY NA 147 2295 FRA01BOU F0551 I0588 Female Heterozygous FRANCE NA 207 2317 FRA01BOU F0574 I0611 Male Heterozygous FRANCE NA 207 3095 UKD09SAL F0016 I0001 NA Heterozygous U.K. NA 242
p.Arg1530His	c.4589G>A	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	G->A	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3330 UKD04OXF F0022 I0006 Female Heterozygous U.K. NA 274 3325 UKD04OXF F0022 I0001 Female Heterozygous U.K. NA 274 3326 UKD04OXF F0022 I0002 Female Heterozygous U.K. NA 274 3327 UKD04OXF F0022 I0003 Male Heterozygous U.K. NA 274 3328 UKD04OXF F0022 I0004 Male Heterozygous U.K. NA 274 3329 UKD04OXF F0022 I0005 Female Heterozygous U.K. NA 274
p.Arg1632His	c.4895G>A	39	1632	cb EGF-like #23	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2015 TAI01TAI F0035 I0001 NA Heterozygous TAIWAN NA 183