The UMD-FBN1 mutations database
Leu to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu11TrpfsX7	c.31delC	1	11	Signal peptide		Small rearrangement	Fr.	Stop at 17	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 755 BEL01GHE F0080 I01 NA Heterozygous BELGIUM NA 121
p.Leu17X	c.50delT	1	17	Signal peptide		Small rearrangement	Fr.	Stop at 17	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 649 FRA01BOU F0213 I0252 Female Heterozygous FRANCE NA 64
p.Leu535TyrfsX44	c.1604delT	13	535	cb EGF-like #04		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 51 USA01BAL F0015 I01 NA Heterozygous U.S.A NA 21
p.Leu647ValfsX66	c.1939_1954del	15	647	cb EGF-like #06		Small rearrangement	Fr.	Stop at 712	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1606 FRA01BOU F0351 I0389 Male Heterozygous FRANCE NA 145
p.Leu802GlnfsX45	c.2405delT	19	802	cb EGF-like #08		Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2768 FRA01BOU F1036 I1072 Female Heterozygous FRANCE NA 207
p.Leu969CysfsX30	c.2905delC	24	969	TGFBP#03		Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2478 FRA01BOU F0735 I0772 Male Heterozygous FRANCE NA 207
p.Leu1080SerfsX8	c.3238delC	26	1080	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 500 FRA01BOU F0159 I0198 Female Heterozygous FRANCE NA 64
p.Leu1122ProfsX40	c.3365delT	27	1122	cb EGF-like #13		Small rearrangement	Fr.	Stop at 1161	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2691 FRA01BOU F0954 I0990 Male Heterozygous FRANCE NA 207
p.Leu1390AlafsX22	c.4168_4171delCTGT	33	1390	cb EGF-like #19	Ca2+ binding	Small rearrangement	Fr.	Stop at 1411	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3158 CHI08BEI F0023 I0001 Female Heterozygous CHINA NA 244 3159 CHI08BEI F0023 I0002 Female Heterozygous CHINA NA 244
p.Pro1453ArgfsX22	c.4356delT	35	1452	cb EGF-like #21		Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 495 FRA01BOU F0152 I0191 Female Heterozygous FRANCE NA 64
p.Leu1492TrpfsX28	c.4474delC	36	1492	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1519	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 773 BEL01GHE F0098 I01 NA Heterozygous BELGIUM NA 121
p.Asn1640MetfsX10	c.4917delG	39	1639	cb EGF-like #23		Small rearrangement	Fr.	Stop at 1649	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2503 FRA01BOU F0759 I0796 Female Heterozygous FRANCE NA 207
p.Leu1979X	c.5934delT	48	1978	cb EGF-like #30		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2438 FRA01BOU F0695 I0732 NA Heterozygous FRANCE NA 207
p.Gln2007LysfsX52	c.6018delT	48	2006	cb EGF-like #30		Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 206 GER03HAN F0002 I01 Female Heterozygous GERMANY NA 66
p.Leu2216CysfsX12	c.6646_6650delCTCTG	54	2216	cb EGF-like #34	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2227	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 953 ITA02PAV F0067 I01 NA Heterozygous ITALIA NA 125
p.Asp2333ThrfsX65	c.6996delT	56	2332	cb EGF-like#36		Small rearrangement	Fr.	Stop at 2397	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 522 SWI01ZUR F0003 I01 NA Heterozygous SWITZERLAND NA 98
p.Cys2390SerfsX15	c.7167_7168delCT	57	2389	TGFBP #07	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 2404	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 704 AUS02WES F0018 I01 NA Heterozygous AUSTRALIA NA 114 875 UKD05LON F0083 I01 NA Heterozygous U.K. NA 96 992 GER01BER F0054 I0001 NA Heterozygous GERMANY NA 129 2602 FRA01BOU F0860 I0896 Female Heterozygous FRANCE NA 207
p.Leu2842ProfsX7	c.8525_8529delTTAAC	65	2842	FibuCTDIII-like motif	conserved AA fibu Glob DIII	Small rearrangement	Fr.	Stop at 2848	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3313 NET05GRO F0065 I0001 NA Heterozygous NETHERLAND NA 272 328 GER01BER F0020 I32 Male Heterozygous GERMANY NA 82 1122 GER03HAN F0059 I01 NA Heterozygous GERMANY NA 133 2036 TAI01TAI F0056 I0001 NA Heterozygous TAIWAN NA 183 2087 SWI01ZUR F0051 I01 NA Heterozygous SWITZERLAND NA 188 2482 FRA01BOU F0739 I0776 Male Heterozygous FRANCE NA 207