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

    Request ID: 5-39

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Pro1068Arg	c.[3203C>G; 3204A>G]	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Ts/Tv	T->C/C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1181 AUS02WES F0062 I01 Female Heterozygous AUSTRALIA NA 139