The UMD-FBN1 mutations database
Tyr to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr20X	c.60C>A	1	20	Signal peptide		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2488 FRA01BOU F0744 I0781 Male Heterozygous FRANCE NA 207
p.Tyr170X	c.510C>G	5	170	EGF-like#03		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 690 AUS02WES F0004 I01 NA Heterozygous AUSTRALIA NA 114
p.Tyr337X	c.1011C>A	9	337	TGFBP#01	conserved AA in TGFBP	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2090 KOR01SEO F0009 I0001 NA Heterozygous S. KOREA NA 189
p.Tyr434X	c.1302T>G	10	434	Proline-rich		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 226 USA03STA F0014 I01 NA Heterozygous U.S.A NA 54
p.Tyr472X	c.1416C>A	11	472	EGF-like #04		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1019 FRA01BOU F0302 I0341 Male Heterozygous FRANCE NA 145
p.Tyr635X	c.1905C>G	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2058 SWI01ZUR F0022 I01 NA Heterozygous SWITZERLAND NA 188 2409 FRA01BOU F0666 I0703 Male Heterozygous FRANCE NA 207
p.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2851 POR01POR F0001 I0001 Female Heterozygous PORTUGAL NA 220 2852 POR01POR F0001 I0002 Female Heterozygous PORTUGAL NA 220 2853 POR01POR F0001 I0003 Female Heterozygous PORTUGAL NA 220 2854 POR01POR F0001 I0004 Male Heterozygous PORTUGAL NA 220 2855 POR01POR F0001 I0005 Male Heterozygous PORTUGAL NA 220 2856 POR01POR F0001 I0006 Male Heterozygous PORTUGAL NA 220 2857 POR01POR F0001 I0007 Female Heterozygous PORTUGAL NA 220 2858 POR01POR F0001 I0008 Male Heterozygous PORTUGAL NA 220
p.Tyr798X	c.2394C>G	19	798	cb EGF-like #08		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2794 FRA01BOU F1062 I1098 Female Heterozygous FRANCE NA 207
p.Tyr962X	c.2886C>A	24	962	TGFBP#03		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2452 FRA01BOU F0708 I0745 Male Heterozygous FRANCE NA 207
p.Tyr962X	c.2886C>G	24	962	TGFBP#03		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2407 FRA01BOU F0664 I0701 Male Heterozygous FRANCE NA 207
p.Tyr1004X	c.3012C>G	24	1004	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2669 FRA01BOU F0932 I0968 Male Heterozygous FRANCE NA 207
p.Tyr1136X	c.3408C>G	27	1136	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1514 ITA01FLO F0042 I01 NA Heterozygous ITALIA NA 146 2004 TAI01TAI F0023 I0001 NA Heterozygous TAIWAN NA 183
p.Tyr1387X	c.4161C>A	33	1387	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2725 FRA01BOU F0991 I1027 Male Heterozygous FRANCE NA 207
p.Tyr1638X	c.4914C>A	39	1638	cb EGF-like #23		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1043 BEL01GHE F0169 I01 NA Heterozygous BELGIUM NA 122
p.Tyr1664X	c.4992C>A	40	1664	cb EGF-like #24	Ca2+ binding	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2720 FRA01BOU F0986 I1022 Male Heterozygous FRANCE NA 207
p.Tyr2062X	c.6186T>A	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1539 ITA01FLO F0067 I01 NA Heterozygous ITALIA NA 146
p.Tyr2062X	c.6186T>G	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2285 FRA01BOU F0542 I0579 Female Heterozygous FRANCE NA 207
p.Tyr2113X	c.6339T>A	51	2113	TGFBP#06		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1695 NOR01OSL F0025 I0001 NA Heterozygous NORWAY NA 148
p.Tyr2113X	c.6339T>G	51	2113	TGFBP#06		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 57 USA01BAL F0011 I07 NA Heterozygous U.S.A NA 5
p.Tyr2338X	c.7014C>A	57	2338	TGFBP #07		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2578 FRA01BOU F0836 I0872 Female Heterozygous FRANCE NA 207
p.Tyr2338X	c.7014C>G	57	2338	TGFBP #07		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2358 FRA01BOU F0615 I0652 Female Heterozygous FRANCE NA 207 2545 FRA01BOU F0803 I0840 Male Heterozygous FRANCE NA 207
p.Tyr2425X	c.7275T>A	58	2425	cb EGF-like #37	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1654 FRA01BOU F0446 I0483 Female Heterozygous FRANCE NA 145
p.Tyr2466X	c.7398C>A	59	2466	cb EGF-like #38	Ca2+ binding	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 386 BEL01GHE F0021 I2307 Male Heterozygous BELGIUM NA 89 568 UKD04OXF F0013 I26 NA Heterozygous U.K. NA 88
p.Tyr2600X	c.7800C>A	62	2600	cb EGF-like #41		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2083 SWI01ZUR F0047 I01 NA Homozygous SWITZERLAND NA 188
p.Tyr2600X	c.7800C>G	62	2600	cb EGF-like #41		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2524 FRA01BOU F0780 I0817 Female Heterozygous FRANCE NA 207
p.Tyr2670X	c.8010C>G	63	2670	cb EGF-like #43	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3349 GER07COL F0006 I0001 Female Heterozygous SAUDI ARABIA NA 281
p.Tyr2793X	c.8379C>G	65	2793	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 971 ITA02PAV F0005 I01 NA Heterozygous ITALIA NA 125
p.Tyr2849X	c.8547T>G	65	2849	FibuCTDIII-like motif		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2848 CHI08BEI F0002 I0001 Male Heterozygous CHINA NA 217 2849 CHI08BEI F0002 I0002 Male Heterozygous CHINA NA 217