The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Aortic surgery

    Request ID: 1-3

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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 319 JAP05YON F0003 I0001 Male Heterozygous JAPAN NA 79 578 USA03STA F0066 I1075 NA Heterozygous U.S.A NA 104
p.His219ProfsX111	c.656delA	6	219	Hybrid module#01		Small rearrangement	Fr.	Stop at 329	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 579 USA03STA F0067 I807 NA Heterozygous U.S.A Type I 104
p.Glu249X	c.745G>T	7	249	cb EGF-like #01	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 580 USA03STA F0068 I860 NA Heterozygous U.S.A Type II 104
p.Arg861X	c.2581C>T	21	861	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 582 USA03STA F0070 I993 NA Heterozygous U.S.A Type III 104
p.Cys1039Tyr	c.3116G>A	25	1039	cb EGF-like #11	Disulfide bonds 1039-1053 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 234 USA03STA F0022 I08 NA Heterozygous U.S.A Type IV d 54
p.Arg1119IlefsX42	c.3355_3358delAGAG	27	1119	cb EGF-like #13		Small rearrangement	Fr.	Stop at 1160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 583 USA03STA F0071 I1103 NA Heterozygous U.S.A Type II 104
p.Gly1127Ser	c.3379G>A	27	1127	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 361 USA03STA F0063 I01 Female Heterozygous U.S.A NA 78
p.Cys1171Arg	c.3511T>C	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 270 USA03STA F0054 I10 NA Heterozygous U.S.A Type IV d 57
p.Asn1256IlefsX20	c.3767delA	30	1256	cb EGF-like #16	Ca2+ binding	Small rearrangement	Fr.	Stop at 1275	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 585 USA03STA F0073 I1439 NA Heterozygous U.S.A NA 104
p.Cys1320Ser	c.3958T>A	31	1320	cb EGF-like #17	Disulfide bonds 1307-1320 (C6)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 240 USA03STA F0028 I22 NA Heterozygous U.S.A Type IV 54
p.Cys1326Arg	c.3976T>C	32	1326	cb EGF-like #18	Disulfide bonds 1326-1339 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 267 USA03STA F0056 I03 NA Heterozygous U.S.A Type IV d 57
p.Cys1361Tyr	c.4082G>A	32	1361	cb EGF-like #18	Disulfide bonds 1350-1361 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 276 USA03STA F0057 I24 NA Heterozygous U.S.A Type IV d 57
p.Gly1394AspfsX19	c.4179delA	33	1393	cb EGF-like #19		Small rearrangement	Fr.	Stop at 1412	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 586 USA03STA F0074 I751 NA Heterozygous U.S.A Type II 104
p.Cys1402Trp	c.4206T>G	33	1402	cb EGF-like #19	Disulfide bonds 1391-1402 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 277 USA03STA F0058 I23 NA Heterozygous U.S.A Type IV 57
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 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 588 USA03STA F0076 I186 NA Heterozygous U.S.A Type II 104
p.Cys1672Arg	c.5014T>C	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 273 USA03STA F0059 I17 NA Heterozygous U.S.A Type II 57
p.Cys1672Phe	c.5015G>T	40	1672	cb EGF-like #24	Disulfide bonds 1658-1672 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 274 USA03STA F0060 I18 NA Heterozygous U.S.A Type IV 57
	c.IVS44-2A>G (c.5546-2A>G)	44-45	1849	cb EGF-like #27	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 550 USA04NOR F0018 I3520 Female Heterozygous U.S.A NA 102
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
	c.IVS46+1G>A (c.5788+1G>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 420 UKD04OXF F0021 I01 Male Heterozygous U.K. NA 90
p.Gln1955X	c.5863C>T	47	1955	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 590 USA03STA F0078 I754 NA Heterozygous U.S.A NA 104
p.Asp2055IlefsX4	c.6163delG	49-50	2055	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 591 USA03STA F0079 I733 NA Heterozygous U.S.A Type II 104
p.Cys2221Arg	c.6661T>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 271 USA03STA F0062 I15 NA Heterozygous U.S.A Type IV 57
p.Arg2414X	c.7240C>T	58	2414	cb EGF-like #37		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 593 USA03STA F0082 I938 NA Heterozygous U.S.A Type II 104
p.Cys2686Phe	c.8057G>T	64	2686	cb EGF-like #43	Disulfide bonds 2674-2686 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 262 USA03STA F0049 I05 NA Heterozygous U.S.A Type IV d 54