The UMD-FBN1 mutations database
Tyr to Asn mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr1585Asn	c.4753T>A	38	1585	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3129 GER03HAN F0107 I0001 Female Heterozygous GERMANY NA 243 3128 GER03HAN F0106 I0001 Female Heterozygous GERMANY NA 243
p.Tyr2639Asn	c.7915T>A	63	2639	cb EGF-like #42		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 379 BEL01GHE F0010 I0833 Male Heterozygous BELGIUM NA 89