The UMD-FBN1 mutations database
Tyr to Cys mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr20Cys	c.59A>G	1	20	Signal peptide		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 895 ITA02PAV F0009 I01 Male Heterozygous ITALIA NA 125
p.Tyr63Cys	c.188A>G	2	63	4-cys motif LTBP-like		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1149 UKD05LON F0112 I01 NA Heterozygous U.K. NA 96
p.Tyr181Cys	c.542A>G	6	181	Hybrid module#01		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1058 AUS02WES F0028 I01 NA Heterozygous AUSTRALIA NA 134
p.Tyr519Cys	c.1556A>G	12	519	cb EGF-like #03	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 760 BEL01GHE F0085 I01 NA Heterozygous BELGIUM NA 121
p.Tyr635Cys	c.1904A>G	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 644 FRA01BOU F0211 I0250 Male Heterozygous FRANCE NA 64 906 ITA02PAV F0020 I01 Male Heterozygous ITALIA NA 125 1500 ITA01FLO F0029 I01 NA Heterozygous ITALIA NA 146 1832 JAP01YOK F0006 I0001 NA Heterozygous JAPAN NA 149 2447 FRA01BOU F0704 I0741 Male Heterozygous FRANCE NA 207
p.Tyr746Cys	c.2237A>G	18	746	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 42 USA01BAL F0016 I01 NA Heterozygous U.S.A NA 21
p.Tyr754Cys	c.2261A>G	18	754	cb EGF-like #07	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 712 AUS03QUE F0001 I0001 Male Heterozygous AUSTRALIA NA 117 2969 CHI08BEI F0005 I0001 Female Heterozygous CHINA NA 234 2970 CHI08BEI F0005 I0002 Male Heterozygous CHINA NA 234 2971 CHI08BEI F0005 I0003 Male Heterozygous CHINA NA 234 3213 CHI16TIA F0002 I0001 NA Heterozygous CHINA NA 261
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 419 BEL01GHE F0054 I0877 Male Heterozygous BELGIUM NA 89 602 GER03HAN F0014 I07 Male Heterozygous GERMANY NA 107 696 AUS02WES F0010 I01 NA Heterozygous AUSTRALIA NA 114 714 FRA01BOU F0273 I0312 Male Heterozygous FRANCE NA 145 918 ITA02PAV F0032 I01 Female Heterozygous ITALIA NA 125 1001 GER01BER F0063 I0001 NA Heterozygous GERMANY NA 129 1274 AUS02WES F0063 I01 Male Heterozygous AUSTRALIA NA 142 2097 KOR01SEO F0016 I0001 NA Heterozygous S. KOREA NA 189 2774 FRA01BOU F1042 I1078 Male Heterozygous FRANCE NA 207
p.Tyr1178Cys	c.3533A>G	28	1178	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 632 FRA01BOU F0258 I0297 Male Heterozygous FRANCE NA 64 2404 FRA01BOU F0661 I0698 Female Heterozygous FRANCE NA 207 3096 UKD09SAL F0017 I0001 NA Heterozygous U.K. NA 242
p.Tyr1186Cys	c.3557A>G	28	1186	cb EGF-like #14	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 177 FRA01BOU F0105 I0143 Male Heterozygous FRANCE NA 64
p.Tyr1219Cys	c.3656A>G	29	1219	cb EGF-like #15	Ca2+ binding	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 922 ITA02PAV F0036 I01 Female Heterozygous ITALIA NA 125 923 ITA02PAV F0037 I01 Female Heterozygous ITALIA NA 125 2470 FRA01BOU F0727 I0764 Female Heterozygous FRANCE NA 207
p.Tyr1261Cys	c.3782A>G	30	1261	cb EGF-like #16	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 201 GER03HAN F0007 I01 Male Heterozygous GERMANY NA 66
p.Tyr1311Cys	c.3932A>G	31	1311	cb EGF-like #17	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2007 TAI01TAI F0026 I0001 NA Heterozygous TAIWAN NA 183 2722 FRA01BOU F0988 I1024 Female Heterozygous FRANCE NA 207
p.Tyr1387Cys	c.4160A>G	33	1387	cb EGF-like #19	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1470 FRA01BOU F0208 I0247 Male Heterozygous FRANCE NA 145
p.Tyr1395Cys	c.4184A>G	33	1395	cb EGF-like #19	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2436 FRA01BOU F0693 I0730 Male Heterozygous FRANCE NA 207
p.Tyr1427Cys	c.4280A>G	34	1427	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3036 JAP02TOK F0013 I0001 NA Heterozygous JAPAN NA 229
p.Tyr1476Cys	c.4427A>G	35	1476	cb EGF-like #21	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1474 FRA01BOU F0411 I0449 Male Heterozygous FRANCE NA 145
p.Tyr1696Cys	c.5087A>G	41	1696	TGFBP#05	conserved AA in TGFBP	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2148 FRA02PAR F0005 I0001 NA Heterozygous BELGIUM NA 200 2170 FRA02PAR F0011 I0001 NA Heterozygous U.K. NA 200
p.Tyr1699Cys	c.5096A>G	41	1699	TGFBP#05		Small rearrangement	Ts	A->G	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2146 FRA02PAR F0006 I0001 NA Heterozygous FRANCE NA 200 2151 FRA02PAR F0008 I0001 NA Heterozygous SWITZERLAND NA 200 2171 FRA02PAR F0012 I0001 NA Heterozygous TURKEY NA 200 2172 FRA02PAR F0015 I0001 NA Heterozygous U.S.A. NA 200 2177 FRA02PAR F0023 I0001 NA Heterozygous N, KOREA NA 200 2179 FRA02PAR F0027 I0001 NA Heterozygous NETHERLAND NA 200
p.Tyr1700Cys	c.5099A>G	41	1700	TGFBP#05		Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3319 FRA02PAR F0033 I0002 NA Heterozygous CHINA NA 200 2145 FRA02PAR F0033 I0001 NA Heterozygous CHINA NA 200
p.Tyr2272Cys	c.6815A>G	55	2272	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	A->G	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 643 FRA01BOU F0228 I0267 Male Heterozygous FRANCE NA 64 1144 UKD05LON F0107 I01 NA Heterozygous U.K. NA 96 2396 FRA01BOU F0653 I0690 Male Heterozygous FRANCE NA 207 3112 UKD09SAL F0033 I0001 NA Heterozygous U.K. NA 242
p.Tyr2474Cys	c.7421A>G	59	2474	cb EGF-like #38	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 542 USA04NOR F0009 I1129 NA Heterozygous U.S.A NA 101 1703 NOR01OSL F0033 I0001 NA Heterozygous NORWAY NA 148
p.Tyr2629Cys	c.7886A>G	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 968 ITA02PAV F0008 I01 NA Heterozygous ITALIA NA 125 1705 NOR01OSL F0035 I0001 NA Heterozygous NORWAY NA 148 2428 FRA01BOU F0685 I0722 Female Heterozygous FRANCE NA 207
p.Tyr2639Cys	c.7916A>G	63	2639	cb EGF-like #42		Small rearrangement	Ts	A->G	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 523 SWI01ZUR F0004 I01 NA Heterozygous SWITZERLAND NA 98 2136 NET05GRO F0001 I0001 Male Heterozygous NETHERLAND NA 197 3117 UKD09SAL F0038 I0001 NA Heterozygous U.K. NA 242 3197 ITA01FLO F0105 I0001 Male Heterozygous ITALIA NA 253 3273 NET05GRO F0025 I0001 NA Heterozygous NETHERLAND NA 272
p.Tyr2661Cys	c.7982A>G	63	2661	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1658 FRA01BOU F0449 I0486 Female Heterozygous FRANCE NA 145
p.Tyr2793Cys	c.8378A>G	65	2793	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1706 NOR01OSL F0036 I0001 NA Heterozygous NORWAY NA 148