The UMD-FBN1 mutations database
Large lesions (51 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1_164del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 1	Fr.	Stop at 9	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2137 SWI01ZUR F0052 I01 NA Heterozygous SWITZERLAND NA 110 2240 FRA01BOU F0496 I0533 Male Heterozygous FRANCE NA 207 2592 FRA01BOU F0849 I0885 Female Heterozygous FRANCE NA 207
p.Met1?	c.1_2113del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 16	Fr.	Stop at 13	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2138 SWI01ZUR F0052 I01 NA Heterozygous SWITZERLAND NA 110
p.Met1?	c.1_538del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 5	Fr.	Stop at 10	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2196 FRA01BOU F0452 I0489 Female Heterozygous FRANCE NA 207 2203 FRA01BOU F0459 I0496 Female Heterozygous FRANCE NA 207 2236 FRA01BOU F0492 I0529 Female Heterozygous FRANCE NA 207 2271 FRA01BOU F0526 I0563 Female Heterozygous FRANCE NA 207 2940 USA18SLC F0001 I0001 Male Heterozygous U.S.A. NA 227
p.Met1?	c.1_8613del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 65	InF	Stop at 46	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3294 NET05GRO F0046 I0001 NA Heterozygous NETHERLAND NA 272 2334 FRA01BOU F0590 I0627 Female Heterozygous FRANCE NA 207 2728 FRA01BOU F0994 I1030 Female Heterozygous FRANCE NA 207
p.Pro56GlyfsX68	c.165_1147del	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Large rearrangement Deletion from exon 2 to 9	Fr.	Stop at 123	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2250 FRA01BOU F0505 I0542 Male Heterozygous FRANCE NA 207
p.Pro56HisfsX45	c.165_247del	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Large rearrangement Deletion from exon 2 to 2	Fr.	Stop at 100	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 556 BEL01GHE F0016 I2089 Male Heterozygous BELGIUM NA 89
p.Pro83_Ile116delinsLeu	c.248_346del	2-3	83	EGF-like #01		Large rearrangement Deletion from exon 3 to 3	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3066 JAP02TOK F0044 I0001 NA Heterozygous JAPAN NA 229
p.Tyr181_Asp765del	c.539_2293del	5-6	180	Hybrid module#01		Large rearrangement Deletion from exon 6 to 18	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2299 FRA01BOU F0555 I0592 Female Heterozygous FRANCE NA 207
p.Val331_Asp490del	c.989_1468del	8-9	330	TGFBP#01	conserved AA in TGFBP	Large rearrangement Deletion from exon 9 to 11	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 991 USA07POR F0003 I0001 NA Heterozygous U.S.A NA 130
p.Val331_Asp613del	c.989_1837del	8-9	330	TGFBP#01	conserved AA in TGFBP	Large rearrangement Deletion from exon 9 to 14	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2603 FRA01BOU F0861 I0897 Male Heterozygous FRANCE NA 207
p.Ile531_Asp2055del	c.1589_6163del	12-13	530	cb EGF-like #04	Ca2+ binding	Large rearrangement Deletion from exon 13 to 49	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1881 UKD08SOU F0001 I0001 Female Heterozygous U.K. NA 168 1924 UKD07WIL F0100 I0001 NA Heterozygous U.K. NA 178
p.Ala705_Glu1807del	c.2114_5422del	16-17	705	TGFBP#02		Large rearrangement Deletion from exon 17 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2217 FRA01BOU F0474 I0511 Female Heterozygous FRANCE NA 207
p.Ile766_Asp952del	c.2294_2854del	18-19	765	cb EGF-like #08	Ca2+ binding	Large rearrangement Deletion from exon 19 to 23	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2245 FRA01BOU F0500 I0537 Male Heterozygous FRANCE NA 207
p.Asp910GlyfsX19	c.2729_8613del	22-23	910	cb EGF-like #10	Ca2+ binding	Large rearrangement Deletion from exon 23 to 65	Fr.	Stop at 928	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2753 FRA01BOU F1021 I1057 Female Heterozygous FRANCE NA 207
p.Ile953_Asp1113del	c.2855_3337del	23-24	952	TGFBP#03	conserved AA in TGFBP	Large rearrangement Deletion from exon 24 to 26	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3211 GER06TUB F0001 I0001 NA Heterozygous GERMANY NA 258
p.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168 1920 UKD07WIL F0096 I0001 NA Heterozygous U.K. NA 178
p.Leu1364_Asp1606del	c.4088_4816del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 38	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3248 AUS01VIE F0014 I0001 Female Heterozygous AUSTRIA NA 271
p.Leu1405_Asp1808del	c.4211_5422del	33-34	1404	cb EGF-like #20	Ca2+ binding	Large rearrangement Deletion from exon 34 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2120 KOR01SEO F0041 I0001 NA Heterozygous S. KOREA NA 189
p.Asp1487PhefsX2	c.4459insTTTTAG	35-36	1487	cb EGF-like #22	Ca2+ binding	Large rearrangement	Fr.	Stop at 1488	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1904 ITA01FLO F0088 I0001 Female Heterozygous ITALIA NA 175
p.Val1488_Asp1528del	c.4460_4582del	35-36	1487	cb EGF-like #22	Ca2+ binding	Large rearrangement Deletion from exon 36 to 36	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2011 TAI01TAI F0031 I0001 NA Heterozygous TAIWAN NA 183
p.Ser1583_Asp1606delinsTyr	c.4748_4816del	37-38	1583	TGFBP#04		Large rearrangement Deletion from exon 38 to 38	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2412 FRA01BOU F0669 I0706 Male Heterozygous FRANCE NA 207
p.Glu1743_Asp1808del	c.5225_5422del	41-42	1742	TGFBP#05		Large rearrangement Deletion from exon 42 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 557 USA03STA F0064 I774 Female Heterozygous U.S.A NA 91
p.Ile1809_Asp1930del	c.5423_5788del	43-44	1808	cb EGF-like #26	Ca2+ binding	Large rearrangement Deletion from exon 44 to 46	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 558 USA03STA F0065 I890 Female Heterozygous U.S.A NA 91
p.Arg1850_Asp1973del	c.5546_5917del	44-45	1849	cb EGF-like #27	Ca2+ binding	Large rearrangement Deletion from exon 45 to 47	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2307 FRA01BOU F0563 I0600 Female Heterozygous FRANCE NA 207
p.Thr2167_Asp2206del	c.6497_6616del	52-53	2166	cb EGF-like #33	Ca2+ binding	Large rearrangement Deletion from exon 53 to 53	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 555 BEL01GHE F0013 I1539 Female Heterozygous BELGIUM NA 89
p.Glu2292_Asp2333del	c.6872_6997del	55-56	2291	cb EGF-like#36	Ca2+ binding	Large rearrangement Deletion from exon 56 to 56	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2300 FRA01BOU F0556 I0593 Male Heterozygous FRANCE NA 207
p.Glu2292_Asp2524del	c.6872_7570del	55-56	2291	cb EGF-like#36	Ca2+ binding	Large rearrangement Deletion from exon 56 to 60	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2326 FRA01BOU F0582 I0619 Male Heterozygous FRANCE NA 207
p.Asp2402GlyfsX68	c.7205_8051del	57-58	2402	cb EGF-like #37	Ca2+ binding	Large rearrangement Deletion from exon 58 to 63	Fr.	Stop at 2469	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2139 GER03HAN F0095 I0001 Female Heterozygous GERMANY NA 111
p.Leu2486_Asp2607del	c.7456_7821del	60	2486	cb EGF-like #39	Ca2+ binding	Large rearrangement Deletion from exon 60 to 63	InF	In frame del	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15 FIN01HEL F0001 I01 Male Heterozygous FINLAND NA 9 2832 FIN01HEL F0001 I02 Female Heterozygous U.K. NA 209 2833 FIN01HEL F0001 I03 Female Heterozygous U.K. NA 209 2834 FIN01HEL F0001 I04 Male Heterozygous U.K. NA 209 2835 FIN01HEL F0001 I05 Female Heterozygous U.K. NA 209 2836 FIN01HEL F0001 I06 Female Heterozygous U.K. NA 209 2837 FIN01HEL F0001 I07 Female Heterozygous U.K. NA 209 2838 FIN01HEL F0001 I08 Female Heterozygous U.K. NA 209 2839 FIN01HEL F0001 I09 Female Heterozygous U.K. NA 209
p.Asp2607fsX19	c.7820_8613del	62-63	2607	cb EGF-like #42	Ca2+ binding	Large rearrangement Deletion from exon 63 to 65	Fr.	Stop at 2625	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2458 FRA01BOU F0715 I0752 Male Heterozygous FRANCE NA 207
p.His2685TyrfsX3	c.6617_8051dup	63-64	2684	cb EGF-like #43		Large rearrangement		Stop at 2687	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2200 FRA01BOU F0456 I0493 Male Heterozygous FRANCE NA 207
p.His2685X	c.7820_8051dup	63-64	2684	cb EGF-like #43		Large rearrangement		Stop at 2685	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2363 FRA01BOU F0620 I0657 Female Heterozygous FRANCE NA 207
p.Asp2743ValfsX19	c.8228_8613del	65	2743	FibuCTDIII-like motif		Large rearrangement Deletion from exon 65 to 65	Fr.	Stop at 2761	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2308 FRA01BOU F0564 I0601 Female Heterozygous FRANCE NA 207