The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Aortic dilatation (unspecified)

    Request ID: 1-1

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys2633Arg	c.7897T>C	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3334 CAN03HAM F0001 I0002 Male Heterozygous CANADA NA 276
	c.IVS64+1G>A (c.8226+1G>A)	64	2742	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3341 BEL01GHE F0260 I0001 Female Heterozygous BELGIUM NA 279