The UMD-FBN1 mutations database
Tyr to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr66ThrfsX42	c.196delT	2	66	4-cys motif LTBP-like		Small rearrangement	Fr.	Stop at 107	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3137 CHI08BEI F0007 I0001 Male Heterozygous CHINA NA 244
p.Tyr170ThrfsX20	c.508delT	5	170	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2048 SWI01ZUR F0011 I01 NA Heterozygous SWITZERLAND NA 188
p.Tyr452ThrfsX127	c.1354delT	11	452	EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1723 UKD07WIL F0007 I0001 Female Heterozygous U.K. NA 157
p.Tyr511ThrfsX68	c.1531delT	12	511	cb EGF-like #03	Ca2+ binding	Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3127 GER03HAN F0105 I0001 Female Heterozygous GERMANY NA 243
p.Tyr635SerfsX78	c.1904_1919del	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Fr.	Stop at 712	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 599 GER03HAN F0012 I05 Female Heterozygous GERMANY NA 107 2056 SWI01ZUR F0020 I01 NA Heterozygous SWITZERLAND NA 188 2057 SWI01ZUR F0021 I01 NA Heterozygous SWITZERLAND NA 188
p.Tyr962ArgfsX29	c.2884_2885delTA	24	962	TGFBP#03		Small rearrangement	Fr.	Stop at 990	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3304 NET05GRO F0056 I0001 NA Heterozygous NETHERLAND NA 272
p.Tyr962ThrfsX35	c.2884_2890del	24	962	TGFBP#03		Small rearrangement	Fr.	Stop at 996	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 802 BEL01GHE F0146 I01 NA Heterozygous BELGIUM NA 122
p.Tyr2062X	c.6186delT	50	2062	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2062	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2026 TAI01TAI F0046 I0001 NA Heterozygous TAIWAN NA 183
p.Tyr2113MetfsX47	c.6337delT	51	2113	TGFBP#06		Small rearrangement	Fr.	Stop at 2159	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1630 FRA01BOU F0417 I0455 Female Heterozygous FRANCE NA 145
p.Lys2630AlafsX51	c.7887_7890delCAAG	63	2629	cb EGF-like #42	Ca2+ binding	Small rearrangement	Fr.	Stop at 2680	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1981 GER03HAN F0093 I0035 NA Heterozygous GERMANY NA 182 3120 GER03HAN F0098 I0001 Male Heterozygous GERMANY NA 243 3123 GER03HAN F0101 I0001 Female Heterozygous GERMANY NA 243 3133 GER03HAN F0111 I0001 Female Heterozygous GERMANY NA 243