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

    Request ID: 1-12

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys271X	c.813C>A	7	271	cb EGF-like #01	Disulfide bonds 257-271 (C4)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3339 CHI17SHA F0001 I0002 Male Heterozygous CHINA NA 278 3338 CHI17SHA F0001 I0001 Female Heterozygous CHINA NA 278
p.Thr371HisfsX5	c.1110insG	9	370	TGFBP#01		Small rearrangement	Fr.	Stop at 375	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2129 USA05HOU F0021 I0001 Male Heterozygous U.S.A. NA 193
p.Cys474Trp	c.1422T>G	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 364 UKD05LON F0001 I07 Male Heterozygous U.K. NA 83
p.Arg485Cys	c.1453C>T	11	485	EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1807 NET04NIJ F0001 I0001 Male Homozygous NETHERLAND NA 158
p.Tyr665X	c.1995C>G	16	665	TGFBP#02		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2851 POR01POR F0001 I0001 Female Heterozygous PORTUGAL NA 220 2854 POR01POR F0001 I0004 Male Heterozygous PORTUGAL NA 220
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.Cys996Arg	c.2986T>C	24	996	TGFBP#03	C in disulfide bonds 981-996	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 84 UKD03DUN F0003 I01 Male Heterozygous U.K. NA 67
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 2130 USA05HOU F0022 I0001 Female Heterozygous MEXICO NA 194
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
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 79 USA05HOU F0013 I62 NA Heterozygous U.S.A Type IV 34
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.Gly1418AlafsX55	c.4253_4259del	34	1418	cb EGF-like #20	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1472	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2128 USA05HOU F0020 I0001 Female Heterozygous U.S.A. NA 193
p.Asn1489Lys	c.4467T>A	36	1489	cb EGF-like #22	Ca2+ binding	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2127 USA05HOU F0019 I0001 Female Heterozygous U.S.A. NA 193
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.Cys1770Phe	c.5309G>T	43	1770	cb EGF-like #25	Disulfide bonds 1770-1782 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 310 AUS01NAD F0021 I25 Female Heterozygous AUSTRALIA NA 114
p.Gly1919Asp	c.5756G>A	46	1919	cb EGF-like #28	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 605 GER03HAN F0017 I11 Female Heterozygous GERMANY NA 107
p.Cys2142Tyr	c.6425G>A	52	2142	cb EGF-like #32	Disulfide bonds 2131-2142 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 203 GER03HAN F0005 I01 Male Heterozygous GERMANY NA 66
p.Cys2153Tyr	c.6458G>A	52	2153	cb EGF-like #32	Disulfide bonds 2153-2164 (C5)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 367 UKD05LON F0004 I08 Male Heterozygous U.K. NA 83 637 FRA01BOU F0222 I0261 Male Heterozygous FRANCE NA 64
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
	c.IVS58-2A>G (c.7331-2A>G)	58-59	2444	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 324 GER01BER F0015 I55 Male Heterozygous GERMANY NA 82
p.Cys2633Arg	c.7897T>C	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3333 CAN03HAM F0001 I0001 Male Heterozygous CANADA NA 276 3336 CAN03HAM F0001 I0004 Male Heterozygous CANADA NA 276