The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Peripheral iris atrophy

    Request ID: 5-31

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu2447Lys	c.7339G>A	59	2447	cb EGF-like #38	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 31 FIN01HEL F0012 I01 Male Heterozygous FINLAND NA 13