The UMD-FBN1 mutations database
Tyr to His mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr2793His	c.8377T>C	65	2793	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2899 BEL01GHE F0211 I0001 NA Heterozygous BELGIUM NA 225