The UMD-FBN1 mutations database
Mutations involving exon 61

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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.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.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.Asn2526Ser	c.7577A>G	61	2526	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1421 UKD05LON F0184 I01 NA Heterozygous U.K. NA 96
p.Asn2526MetfsX156	c.7577delA	61	2526	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 435 BEL01GHE F0062 I1120 Female Heterozygous BELGIUM NA 89
p.Cys2528Tyr	c.7583G>A	61	2528	cb EGF-like #40	Disulfide bonds 2528-2541 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2628 FRA01BOU F0887 I0923 Female Heterozygous FRANCE NA 207
p.Cys2528Phe	c.[7583G>T; 7584C>T]	61	2528	cb EGF-like #40	Disulfide bonds 2528-2541 (C1)	Small rearrangement	Tv/Ts	G->T/C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1448 FRA01BOU F0402 I0440 Female Heterozygous FRANCE NA 145
p.Cys2535X	c.7605C>A	61	2535	cb EGF-like #40	Disulfide bonds 2535-2550 (C2)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 325 GER01BER F0017 I22 Male Heterozygous GERMANY NA 82 2082 SWI01ZUR F0046 I01 NA Heterozygous SWITZERLAND NA 188
p.Cys2535Trp	c.7605C>G	61	2535	cb EGF-like #40	Disulfide bonds 2535-2550 (C2)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 961 ITA02PAV F0075 I01 NA Heterozygous ITALIA NA 125
p.Gly2536Arg	c.7606G>A	61	2536	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	G->A	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 368 UKD05LON F0005 I24 Female Heterozygous U.K. NA 83 808 BEL01GHE F0152 I01 NA Heterozygous BELGIUM NA 122 1120 GER03HAN F0057 I01 NA Heterozygous GERMANY NA 133 1422 UKD05LON F0185 I01 NA Heterozygous U.K. NA 96 1804 UKD07WIL F0088 I0001 NA Heterozygous U.K. NA 157 2756 FRA01BOU F1024 I1060 Female Heterozygous FRANCE NA 207 3114 UKD09SAL F0035 I0001 NA Heterozygous U.K. NA 242
p.Cys2541Ser	c.7622G>C	61	2541	cb EGF-like #40	Disulfide bonds 2528-2541 (C3)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2712 FRA01BOU F0978 I1014 Female Heterozygous FRANCE NA 207
p.Cys2541Phe	c.7622G>T	61	2541	cb EGF-like #40	Disulfide bonds 2528-2541 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1423 UKD05LON F0186 I01 NA Heterozygous U.K. NA 96
p.Gln2542X	c.7624C>T	61	2542	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 880 UKD05LON F0088 I01 NA Heterozygous U.K. NA 96
p.Pro2545Ser	c.7633C>T	61	2545	cb EGF-like #40	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3115 UKD09SAL F0036 I0001 NA Heterozygous U.K. NA 242
p.Ser2547ThrfsX135	c.7640delG	61	2547	cb EGF-like #40	Ca2+ binding	Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 706 AUS02WES F0020 I01 NA Heterozygous AUSTRALIA NA 114
p.Cys2550Tyr	c.7649G>A	61	2550	cb EGF-like #40	Disulfide bonds 2535-2550 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3245 AUS01VIE F0011 I0001 Male Heterozygous AUSTRIA NA 271
p.Gln2553X	c.7657C>T	61	2553	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3078 KOR01SEO F0042 I0001 Male Heterozygous S. KOREA NA 241
p.Arg2554Trp	c.7660C>T	61	2554	cb EGF-like #40		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 881 UKD05LON F0089 I01 NA Heterozygous U.K. NA 96
p.Arg2554Gln	c.7661G>A	61	2554	cb EGF-like #40		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 546 USA04NOR F0021 I3602 Male Heterozygous U.S.A NA 102 3136 GER03HAN F0114 I0001 Female Heterozygous GERMANY NA 243
p.Gly2555Val	c.7664G>T	61	2555	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1355 FRA01BOU F0387 I0425 Male Heterozygous FRANCE NA 145 1424 UKD05LON F0187 I01 NA Heterozygous U.K. NA 96 3116 UKD09SAL F0037 I0001 NA Heterozygous U.K. NA 242
p.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
p.Ser2557X	c.7670C>A	61	2557	cb EGF-like #40		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1777 UKD07WIL F0062 I0001 NA Heterozygous U.K. NA 157
p.Asp2559GlyfsX8	c.7675dup	61	2559	cb EGF-like #40		Small rearrangement		Stop at 2566	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2651 FRA01BOU F0913 I0949 Male Heterozygous FRANCE NA 207
p.Thr2561Pro	c.7681A>C	61	2561	cb EGF-like #40		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1554 ITA01FLO F0080 I01 NA Heterozygous ITALIA NA 146
p.Cys2565Tyr	c.7694G>A	61	2565	cb EGF-like #40	Disulfide bonds 2552-2565 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2670 FRA01BOU F0933 I0969 NA Heterozygous FRANCE NA 207