The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Adhesion of iris with cornea

    Request ID: 5-1

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1117Tyr	c.3350G>A	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 106 AUS01NAD F0007 I01 NA Heterozygous AUSTRALIA NA 114