The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Desc. aortic dilatation (thor or abdo)

    Request ID: 1-11

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 527 USA05HOU F0015 I01 Male Heterozygous U.S.A Type II 99 1917 UKD07WIL F0093 I0001 Male Heterozygous U.K. NA 178 2185 FRA04DIJ F0001 I0001 Female Heterozygous FRANCE NA 256
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64
p.Cys271X	c.813C>A	7	271	cb EGF-like #01	Disulfide bonds 257-271 (C4)	Small rearrangement	Tv	C->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3340 CHI17SHA F0001 I0003 Female Heterozygous CHINA NA 278 3338 CHI17SHA F0001 I0001 Female Heterozygous CHINA NA 278 3339 CHI17SHA F0001 I0002 Male Heterozygous CHINA NA 278
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 112 UKD01EDI F0006 I01 Female Heterozygous U.K. NA 41
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
	c.IVS18-1G>A (c.2294-1G>A)	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 316 AUS01NAD F0014 I13 Female Heterozygous AUSTRALIA NA 71
p.Cys875Arg	c.2623T>C	21	875	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 496 FRA01BOU F0134 I0173 Male Heterozygous FRANCE NA 64
p.Gly989ValfsX10	c.2966delG	24	989	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 634 FRA01BOU F0229 I0268 Male Heterozygous FRANCE NA 64
p.Phe1026SerfsX9	c.3075delC	24	1025			Small rearrangement	Fr.	Stop at 1034	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2803 USA05HOU F0022 I0002 Male Heterozygous MEXICO NA 194
p.Cys1307Tyr	c.3920G>A	31	1307	cb EGF-like #17	Disulfide bonds 1307-1320 (C5)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 631 FRA01BOU F0171 I0210 Male Heterozygous FRANCE NA 64 2847 JAP03OSA F0010 I0001 Male Heterozygous JAPAN NA 216
p.Asn1332ThrfsX82	c.3993_3994dup	32	1332	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1413	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 FRA01BOU F0262 I0301 Male Heterozygous FRANCE NA 64
p.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64
p.Cys1564Tyr	c.4691G>A	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 701 AUS02WES F0015 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys1748Arg	c.5242T>C	42	1748	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3206 USA05HOU F0025 I0001 Male Heterozygous U.S.A. NA 255
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
p.Cys1793Trp	c.5379T>G	43	1793	cb EGF-like #25	Disulfide bonds 1793-1806 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 311 AUS01NAD F0022 I32 Female Heterozygous AUSTRALIA NA 114
p.Arg2282Trp	c.6844C>T	55	2282	cb EGF-like #35		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 132 BEL01GHE F0008 I01 Male Heterozygous BELGIUM NA 89
p.Cys2302X	c.6906T>A	56	2302	cb EGF-like#36	Disulfide bonds 2302-2316 (C2)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2861 POR01POR F0002 I0002 Male Heterozygous PORTUGAL NA 224
p.Cys2307Arg	c.6919T>C	56	2307	cb EGF-like#36	Disulfide bonds 2295-2307 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 356 FRA01BOU F0144 I0183 Female Heterozygous FRANCE NA 64
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3009 NET03LEI F0002 I0009 Male Heterozygous TURKEY NA 219
p.Lys2630ThrfsX53	c.7885_7886dup	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2682	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1557 ITA01FLO F0083 I01 NA Heterozygous ITALIA NA 146