The UMD-FBN1 mutations database
Mutations involving exon 48

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Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.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.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.Glu1976MetfsX5	c.5924_5925dup	48	1976	cb EGF-like #30	Ca2+ binding	Small rearrangement	Fr.	Stop at 1980	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2076 SWI01ZUR F0040 I01 NA Heterozygous SWITZERLAND NA 188
p.Glu1976Lys	c.5926G>A	48	1976	cb EGF-like #30	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1768 UKD07WIL F0052 I0001 NA Heterozygous U.K. NA 157
p.Glu1976Gly	c.5927A>G	48	1976	cb EGF-like #30	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2912 BEL01GHE F0225 I0001 NA Heterozygous BELGIUM NA 225
p.Cys1977Arg	c.5929T>C	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 567 UKD04OXF F0012 I41 NA Heterozygous U.K. NA 88 1588 FRA01BOU F0285 I0324 Female Heterozygous FRANCE NA 145
p.Cys1977Tyr	c.5930G>A	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 136 BEL01GHE F0004 I01 Female Heterozygous BELGIUM NA 89
p.Cys1977Trp	c.5931T>G	48	1977	cb EGF-like #30	Disulfide bonds 1977-1989 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1537 ITA01FLO F0065 I01 NA Heterozygous ITALIA NA 146
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.Cys1984Arg	c.5950T>C	48	1984	cb EGF-like #30	Disulfide bonds 1984-1998 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2896 BEL01GHE F0208 I0001 NA Heterozygous BELGIUM NA 225
p.Cys1984Tyr	c.5951G>A	48	1984	cb EGF-like #30	Disulfide bonds 1984-1998 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2328 FRA01BOU F0584 I0621 Male Heterozygous FRANCE NA 207
p.Gly1987ValfsX70	c.5958_5964del	48	1986	cb EGF-like #30		Small rearrangement	Fr.	Stop at 2056	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 860 UKD05LON F0068 I01 NA Heterozygous U.K. NA 96
p.Gly1987Arg	c.5959G>C	48	1987	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 366 UKD05LON F0003 I14 Male Heterozygous U.K. NA 83
p.Gly1987Val	c.5960G>T	48	1987	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1605 FRA01BOU F0350 I0388 Female Heterozygous FRANCE NA 145
p.Cys1989Phe	c.5966G>T	48	1989	cb EGF-like #30	Disulfide bonds 1977-1989 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2415 FRA01BOU F0672 I0709 Female Heterozygous FRANCE NA 207
p.Ser1995Pro	c.5983T>C	48	1995	cb EGF-like #30	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 746 BEL01GHE F0132 I01 NA Heterozygous BELGIUM NA 122
p.Arg1997X	c.5989A>T	48	1997	cb EGF-like #30	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 144 UKD03DUN F0008 I01 Female Heterozygous U.K. NA 70
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.Cys1998Tyr	c.5993G>A	48	1998	cb EGF-like #30	Disulfide bonds 1984-1998 (C4)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 468 GER01BER F0047 I16 Female Heterozygous GERMANY NA 95 1800 UKD07WIL F0084 I0001 NA Heterozygous U.K. NA 157
p.Cys2000Ser	c.5999G>C	48	2000	cb EGF-like #30	Disulfide bonds 2000-2011 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1769 UKD07WIL F0053 I0001 NA Heterozygous U.K. NA 157
p.Gly2003X	c.6007G>T	48	2003	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2403 FRA01BOU F0660 I0697 Female Heterozygous FRANCE NA 207
p.Tyr2004ThrfsX55	c.6009delA	48	2003	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2058	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 353 FRA01BOU F0116 I0154 Female Heterozygous FRANCE NA 64
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.Cys2011Gly	c.6031T>G	48	2011	cb EGF-like #30	Disulfide bonds 2000-2011 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3108 UKD09SAL F0030 I0001 NA Heterozygous U.K. NA 242
p.Asp2013Tyr	c.6037G>T	48-49	2013	cb EGF-like #31	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3023 NET03LEI F0010 I0001 NA Heterozygous NETHERLAND NA 219