The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Hypoplastic ciliary muscle->decreased miosis (m)

    Request ID: 5-15

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg240Cys	c.718C>T	6	240	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 133 BEL01GHE F0007 I01 Female Heterozygous BELGIUM NA 89
p.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168
p.Cys1977Tyr	c.5930G>A	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 136 BEL01GHE F0004 I01 Female Heterozygous BELGIUM NA 89