The UMD-FBN1 mutations database
Arg to Gly mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg439Gly	c.1315C>G	10	439	Proline-rich		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 900 ITA02PAV F0014 I01 Male Heterozygous ITALIA NA 125
p.Arg516Gly	c.1546C>G	12	516	cb EGF-like #03		Small rearrangement	Tv	C->G	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2818 USA05HOU F0024 I0001 Female Heterozygous MEXICO NA 194 2820 USA05HOU F0024 I0002 Female Heterozygous MEXICO NA 194 2822 USA05HOU F0024 I0003 Male Heterozygous MEXICO NA 194 2824 USA05HOU F0024 I0004 Female Heterozygous MEXICO NA 194 2826 USA05HOU F0024 I0005 Male Heterozygous MEXICO NA 194 2829 USA05HOU F0024 I0007 Male Heterozygous MEXICO NA 194 2831 USA05HOU F0024 I0008 Female Heterozygous MEXICO NA 194
p.Arg636Gly	c.1906A>G	15	636	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3355 ITA01FLO F0111 I0001 Male Heterozygous ITALIA NA 282
p.Arg1530Gly	c.4588C>G	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2562 FRA01BOU F0821 I0857 NA Heterozygous FRANCE NA 207