The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Other artery aneurysm/dissection

    Request ID: 1-20

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys166Phe	c.497G>T	5	166	EGF-like#03	Disulfide bonds 154-166 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 41 USA01BAL F0014 I01 NA Heterozygous U.S.A NA 21
p.Gly479ArgfsX12	c.1434dup	11	479	EGF-like #04	conserved AA in EGF-like	Small rearrangement	Fr.	Stop at 490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 656 FRA01BOU F0241 I0280 Male Heterozygous FRANCE NA 64
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.Cys2633Arg	c.7897T>C	63	2633	cb EGF-like #42	Disulfide bonds 2633-2646 (C5)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3336 CAN03HAM F0001 I0004 Male Heterozygous CANADA NA 276 3333 CAN03HAM F0001 I0001 Male Heterozygous CANADA NA 276