The UMD-FBN1 mutations database
Tyr to Insertion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr170X	c.509dup	5	170	EGF-like#03		Small rearrangement	Fr.	Stop at 170	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1986 TAI01TAI F0005 I0001 NA Heterozygous TAIWAN NA 183
p.Tyr311LeufsX37	c.931dup	8	311	cb EGF-like #02	Ca2+ binding	Small rearrangement	Fr.	Stop at 347	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 284 UKD04OXF F0002 I02 NA Heterozygous U.K. Type I or II ? 58
p.Tyr320X	c.959dup	8	320	cb EGF-like #02		Small rearrangement		Stop at 320	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2679 FRA01BOU F0942 I0978 Female Heterozygous FRANCE NA 207 432 BEL01GHE F0059 I2203 Male Heterozygous BELGIUM NA 89
p.Tyr337X	c.1010dup	9	337	TGFBP#01	conserved AA in TGFBP	Small rearrangement		Stop at 337	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2448 FRA01BOU F0705 I0742 Male Heterozygous FRANCE NA 207
p.Tyr2062X	c.6185dup	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2062	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 254 USA03STA F0042 I01 NA Heterozygous U.S.A NA 54 1015 FRA01BOU F0289 I0328 Male Heterozygous FRANCE NA 145
p.Lys2630ThrfsX53	c.7885_7886dup	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2682	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1557 ITA01FLO F0083 I01 NA Heterozygous ITALIA NA 146
p.Tyr2716X	c.8147dup	64	2716	FibuCTDIII-like motif		Small rearrangement		Stop at 2716	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2393 FRA01BOU F0650 I0687 Male Heterozygous FRANCE NA 207