The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Incomplete description

    Request ID: 6-16

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu30X	c.88G>T	1	30	NH2 unique region		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1914 UKD07WIL F0091 I0001 Male Heterozygous U.K. NA 178
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 447 GER01BER F0023 I46 Male Heterozygous GERMANY NA 95
p.Cys80Tyr	c.239G>A	2	80	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1915 UKD07WIL F0001 I0001 Female Heterozygous U.K. NA 157
	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 1918 UKD07WIL F0094 I0001 Male Heterozygous U.K. NA 178 1916 UKD07WIL F0092 I0001 Male Heterozygous U.K. NA 157 1917 UKD07WIL F0093 I0001 Male Heterozygous U.K. NA 178
p.Arg215X	c.643C>T	6	215	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 294 JAP03OSA F0001 I0001 Male Heterozygous JAPAN NA 55
p.Gln258X	c.772C>T	7	258	cb EGF-like #01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1721 UKD07WIL F0005 I0001 Male Heterozygous U.K. NA 157
p.Tyr452ThrfsX127	c.1354delT	11	452	EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1723 UKD07WIL F0007 I0001 Female Heterozygous U.K. NA 157
p.Phe675ValfsX42	c.2023_2026delTTTG	16	675	TGFBP#02		Small rearrangement	Fr.	Stop at 716	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1730 UKD07WIL F0014 I0001 Male Heterozygous U.K. NA 157
	c.IVS16-2A>G (c.2114-2A>G)	16-17	705	TGFBP#02		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1731 UKD07WIL F0015 I0001 Male Heterozygous U.K. NA 157
p.Cys769Arg	c.2305T>C	19	769	cb EGF-like #08	Disulfide bonds 769-781 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1732 UKD07WIL F0016 I0001 Female Heterozygous U.K. NA 157
p.Ser813X	c.2438C>G	20	813	cb EGF-like #09		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 295 JAP03OSA F0002 I0001 Female Heterozygous JAPAN NA 55
p.Ile858HisfsX2	c.2570dup	21	857	Hybrid motif #02		Small rearrangement	Fr.	Stop at 859	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 297 JAP03OSA F0003 I0001 Male Heterozygous JAPAN NA 55
p.Lys1043Glu	c.3127A>G	25	1043	cb EGF-like #11		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1551 KOR01SEO F0006 I01 Male Heterozygous S. KOREA NA 100
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 17
p.Cys1652Tyr	c.4955G>A	40	1652	cb EGF-like #24	Disulfide bonds 1652-1663 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 263 JAP03OSA F0004 I0001 Male Heterozygous JAPAN NA 55
	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 362 USA01BAL F0035 I32 Female Heterozygous U.S.A NA 81
p.Gln2054Pro	c.6161A>C	49	2054	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 293 JAP03OSA F0005 I0001 Male Heterozygous JAPAN NA 55
p.Asp2127Tyr	c.6379G>T	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 264 JAP03OSA F0006 I0001 Male Heterozygous JAPAN NA 55
p.Thr2167_Asp2206del	c.6497_6616del	52-53	2166	cb EGF-like #33	Ca2+ binding	Large rearrangement Deletion from exon 53 to 53	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 555 BEL01GHE F0013 I1539 Female Heterozygous BELGIUM NA 89
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 351 JAP03OSA F0007 I0001 Male Heterozygous JAPAN NA 55
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 265 JAP03OSA F0008 I0001 Male Heterozygous JAPAN NA 55
p.Cys2221Gly	c.6661T>G	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 471 GER01BER F0050 I37 Female Heterozygous GERMANY NA 95
p.Gln2598ProfsX10	c.7790dup	62	2597	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2607	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 298 JAP03OSA F0009 I0001 Male Heterozygous JAPAN NA 55