The UMD-FBN1 mutations database
Arg to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg122LeufsX6	c.365_366delGC	4	122	EGF-like #02		Small rearrangement	Fr.	Stop at 127	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 687 AUS02WES F0002 I01 NA Heterozygous AUSTRALIA NA 114
p.Thr526GlnfsX53	c.1575delG	12	525	cb EGF-like #03		Small rearrangement	Fr.	Stop at 578	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1039 BEL01GHE F0165 I01 NA Heterozygous BELGIUM NA 122
p.Arg565GlnfsX14	c.1694delG	13	565	cb EGF-like #04		Small rearrangement	Fr.	Stop at 578	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3233 AUS01VIE F0001 I0002 Male Heterozygous AUSTRIA NA 271 3232 AUS01VIE F0001 I0001 Male Heterozygous AUSTRIA NA 271
p.Arg1119IlefsX42	c.3355_3358delAGAG	27	1119	cb EGF-like #13		Small rearrangement	Fr.	Stop at 1160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 583 USA03STA F0071 I1103 NA Heterozygous U.S.A Type II 104
p.Arg1469AlafsX6	c.4405delC	35	1469	cb EGF-like #21	Ca2+ binding	Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1840 JAP01YOK F0014 I0001 NA Heterozygous JAPAN NA 149
p.Arg1523GlufsX58	c.4567delC	36	1523	cb EGF-like #22		Small rearrangement	Fr.	Stop at 1580	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1754 UKD07WIL F0038 I0001 NA Heterozygous U.K. NA 157
p.Arg1691del	c.5071_5073delAGA	41	1691	TGFBP#05	conserved AA in TGFBP	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1820 GER05DOR F0015 I0001 NA Heterozygous GERMANY NA 147
p.Arg1692del	c.5074_5076delAGA	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 849 UKD05LON F0057 I01 NA Heterozygous U.K. NA 96
p.Arg1692_Tyr1699del	c.5074_5097del	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 596 FRA02PAR F0001 I0001 Male Heterozygous FRANCE NA 106
p.Arg1692SerfsX21	c.5076_5082del	41	1692	TGFBP#05		Small rearrangement	Fr.	Stop at 1712	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 425 ITA01FLO F0007 I04 Female Heterozygous ITALIA NA 93 1876 ITA01FLO F0094 I0001 NA Heterozygous ITALIA NA 146
p.Arg1771GlyfsX122	c.5311delC	43	1771	cb EGF-like #25		Small rearrangement	Fr.	Stop at 1892	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 205 GER03HAN F0003 I01 Female Heterozygous GERMANY NA 66
p.Asn1907ThrfsX23	c.5718delG	46	1906	cb EGF-like #28	Ca2+ binding	Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 858 UKD05LON F0066 I01 NA Heterozygous U.K. NA 96
p.Arg1997SerfsX62	c.5991delA	48	1997	cb EGF-like #30	Ca2+ binding	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 861 UKD05LON F0069 I01 NA Heterozygous U.K. NA 96
p.Arg2051GlufsX8	c.6151delA	49	2051	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 994 GER01BER F0056 I0001 NA Heterozygous GERMANY NA 129
p.Arg2242ValfsX49	c.6724delC	54	2242	cb EGF-like #34		Small rearrangement	Fr.	Stop at 2290	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 872 UKD05LON F0080 I01 NA Heterozygous U.K. NA 96
p.Gly2423IlefsX7	c.7266_7267delAG	58	2422	cb EGF-like #37	Ca2+ binding	Small rearrangement	Fr.	Stop at 2429	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 981 FRA01BOU F0310 I0349 Female Heterozygous FRANCE NA 145