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

    Request ID: 5-11

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3249 CHI15SHI F0001 I0004 Male Heterozygous CHINA NA 250 3190 CHI15SHI F0001 I0002 Male Heterozygous CHINA NA 250 3191 CHI15SHI F0001 I0003 Male Heterozygous CHINA NA 250 3192 CHI15SHI F0001 I0005 Female Heterozygous CHINA NA 250
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 107 AUS01NAD F0008 I01 Male Heterozygous AUSTRALIA NA 114