The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Cardiac malformation

    Request ID: 1-8

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys68Phe	c.203G>T	2	68	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1661 CHI05HAN F0001 I0001 Female Heterozygous CHINA NA 154
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1910 CHI05HAN F0008 I0001 Male Heterozygous CHINA NA 177
p.Asn751AspfsX19	c.2251_2257del	18	751	cb EGF-like #07		Small rearrangement	Fr.	Stop at 769	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 529 KOR01SEO F0002 I01 Male Heterozygous S. KOREA NA 100
p.Cys845Tyr	c.2534G>A	20	845	cb EGF-like #09	Disulfide bonds 832-845 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2191 FRA04DIJ F0002 I0001 Male Heterozygous FRANCE NA 256
p.Cys1055Trp	c.3165T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 399 BEL01GHE F0034 I2115 Male Heterozygous BELGIUM NA 115
	c.IVS27-1G>A (c.3464-1G>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 502 FRA01BOU F0126 I0164 Female Heterozygous FRANCE NA 64
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28
p.His1331ThrfsX19	c.3989dup	32	1330	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1349	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2042 USA15BOS F0001 I0001 Male Heterozygous U.S.A. NA 186
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3322 FRA04DIJ F0004 I0001 Male Heterozygous FRANCE NA 256
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 2184 FRA04DIJ F0005 I0001 Male Heterozygous FRANCE NA 256