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

    Request ID: 5-5

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 1910 CHI05HAN F0008 I0001 Male Heterozygous CHINA NA 177
p.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2972 SPA01MAD F0001 I0001 Male Heterozygous SPAIN NA 235