The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Bicuspid aortic valve

    Request ID: 1-7

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg529Gln	c.1586G>A	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3354 ITA01FLO F0110 I0001 Male Heterozygous ITALIA NA 282
p.Arg636Gly	c.1906A>G	15	636	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3355 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2846 CAN01TOR F0005 I0001 Male Heterozygous HUNGARY NA 214
p.Tyr2272Cys	c.6815A>G	55	2272	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 643 FRA01BOU F0228 I0267 Male Heterozygous FRANCE NA 64
p.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
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 3356 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282