The UMD-FBN1 mutations database
Tyr to Asp mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr1261Asp	c.3781T>G	30	1261	cb EGF-like #16	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 925 ITA02PAV F0039 I01 Female Heterozygous ITALIA NA 125
p.Tyr1427Asp	c.4279T>G	34	1427	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 842 UKD05LON F0050 I01 NA Heterozygous U.K. NA 96 1180 UKD05LON F0126 I01 NA Heterozygous U.K. NA 96
p.Tyr1699Asp	c.5095T>G	41	1699	TGFBP#05		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2175 FRA02PAR F0020 I0001 NA Heterozygous JAPAN NA 200