The UMD-FBN1 mutations database
Mutations associated with phenotype: C-No cardiovascular involvement

    Request ID: 1-19

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.Cys68Ser	c.203G>C	2	68	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1147 UKD05LON F0110 I01 NA Heterozygous U.K. NA 96
p.Cys177Arg	c.529T>C	5	177	EGF-like#03	Disulfide bonds 168-177 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 897 ITA02PAV F0011 I01 Female Heterozygous ITALIA NA 125
p.Cys365Trp	c.1095C>G	9	365	TGFBP#01	C in disulfide bonds 345-365	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 824 UKD05LON F0032 I01 NA Heterozygous U.K. NA 96
	c.IVS11+5G>A (c.1468+5G>A)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1153 UKD05LON F0116 I01 NA Heterozygous U.K. NA 96
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1371 UKD05LON F0135 I01 NA Heterozygous U.K. NA 96
p.Cys596Arg	c.1786T>C	14	596	cb EGF-like #05	Disulfide bonds 582-596 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1178 UKD05LON F0124 I01 NA Heterozygous U.K. NA 96
p.Ala882Val	c.2645C>T	21	882	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1374 UKD05LON F0138 I01 NA Heterozygous U.K. NA 96
p.Glu966X	c.2896G>T	24	966	TGFBP#03		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 834 UKD05LON F0042 I01 NA Heterozygous U.K. NA 96
p.Trp988X	c.2964_2971del	24	988	TGFBP#03		Small rearrangement	Fr.	Stop at 988	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 836 UKD05LON F0044 I01 NA Heterozygous U.K. NA 96
p.Cys1086X	c.3258T>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1379 UKD05LON F0142 I01 NA Heterozygous U.K. NA 96
p.Asp1155Asn	c.3463G>A	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1382 UKD05LON F0145 I01 NA Heterozygous U.K. NA 96
p.Arg1170His	c.3509G>A	28	1170	cb EGF-like #14		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1383 UKD05LON F0146 I01 NA Heterozygous U.K. NA 96
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 844 UKD05LON F0052 I01 NA Heterozygous U.K. NA 96
	c.IVS37-1G>A (c.4748-1G>A)	37-38	1583	TGFBP#04		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1395 UKD05LON F0158 I01 NA Heterozygous U.K. NA 96
p.Cys1633Ser	c.4898G>C	39	1633	cb EGF-like #23	Disulfide bonds 1633-1646 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 848 UKD05LON F0056 I01 NA Heterozygous U.K. NA 96
p.Arg1692del	c.5074_5076delAGA	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 849 UKD05LON F0057 I01 NA Heterozygous U.K. NA 96
p.Asp1898ValfsX32	c.5693delA	46	1898	cb EGF-like #28		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 857 UKD05LON F0065 I01 NA Heterozygous U.K. NA 96
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1401 UKD05LON F0164 I01 NA Heterozygous U.K. NA 96
p.Gly1987ValfsX70	c.5958_5964del	48	1986	cb EGF-like #30		Small rearrangement	Fr.	Stop at 2056	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 860 UKD05LON F0068 I01 NA Heterozygous U.K. NA 96
p.Arg1997SerfsX62	c.5991delA	48	1997	cb EGF-like #30	Ca2+ binding	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 861 UKD05LON F0069 I01 NA Heterozygous U.K. NA 96
	c.IVS49-1G>T (c.6164-1G>T)	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1404 UKD05LON F0167 I01 NA Heterozygous U.K. NA 96
p.Glu2250Gly	c.6749A>G	55	2250	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1159 UKD05LON F0121 I01 NA Heterozygous U.K. NA 96
p.Tyr2272Cys	c.6815A>G	55	2272	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1144 UKD05LON F0107 I01 NA Heterozygous U.K. NA 96
p.Pro2294Ala	c.6880C>G	56	2294	cb EGF-like#36	Ca2+ binding	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 776 BEL01GHE F0103 I01 NA Heterozygous BELGIUM NA 121
p.Glu2447Lys	c.7339G>A	59	2447	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 876 UKD05LON F0084 I01 NA Heterozygous U.K. NA 96
p.Cys2448Arg	c.7342T>C	59	2448	cb EGF-like #38	Disulfide bonds 2448-2459 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 878 UKD05LON F0086 I01 NA Heterozygous U.K. NA 96
p.Asn2526Ser	c.7577A>G	61	2526	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1421 UKD05LON F0184 I01 NA Heterozygous U.K. NA 96
p.Ile2585Thr	c.7754T>C	62	2585	cb EGF-like #41	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 884 UKD05LON F0092 I01 NA Heterozygous U.K. NA 96
	c.IVS63+5G>A (c.8051+5G>A)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 893 UKD05LON F0030 I01 NA Heterozygous U.K. NA 96
p.Cys2718LeufsX34	c.8153delG	64	2718	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2751	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1151 UKD05LON F0114 I01 NA Heterozygous U.K. NA 96
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1431 UKD05LON F0194 I01 NA Heterozygous U.K. NA 96