The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Lens implantation

    Request ID: 5-21

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys476Arg	c.1426T>C	11	476	EGF-like #04	Disulfide bonds 476-488 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2950 USA03STA F0091 I0001 Female Heterozygous U.S.A. NA 228
p.Cys499Tyr	c.1496G>A	12	499	cb EGF-like #03	Disulfide bonds 499-513 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2949 USA03STA F0090 I0001 Female Heterozygous U.S.A. NA 228
p.Ser1235Pro	c.3703T>C	29	1235	cb EGF-like #15		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2938 CHI08BEI F0003 I0002 Female Heterozygous CHINA NA 226