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

    Request ID: 5-37

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 37 FIN01HEL F0014 I01 Male Heterozygous FINLAND NA 18
p.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1275 AUS02WES F0064 I01 Male Heterozygous AUSTRALIA NA 142
p.Cys1748Arg	c.5242T>C	42	1748	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3206 USA05HOU F0025 I0001 Male Heterozygous U.S.A. NA 255
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