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

    Request ID: 5-24

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1074Arg	c.3220T>C	26	1074	cb EGF-like #12	Disulfide bonds 1074-1086 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17 FIN01HEL F0003 I01 NA Heterozygous FINLAND ECM incorporation 10