The UMD-FBN1 mutations database
Mutations involving exon 27

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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 2334 FRA01BOU F0590 I0627 Female Heterozygous FRANCE NA 207 2728 FRA01BOU F0994 I1030 Female Heterozygous FRANCE NA 207 3294 NET05GRO F0046 I0001 NA Heterozygous NETHERLAND NA 272
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.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.Asp1113Asn	c.3337G>A	26-27	1113	cb EGF-like #13	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3094 UKD09SAL F0015 I0001 NA Heterozygous U.K. NA 242
p.Asp1113Gly	c.3338A>G	26-27	1113	cb EGF-like #13	Ca2+ binding	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 236 USA03STA F0024 I01 NA Heterozygous U.S.A NA 54 1683 NOR01OSL F0013 I0001 NA Heterozygous NORWAY NA 148
p.Asp1113Val	c.3338A>T	26-27	1113	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1103 GER03HAN F0038 I01 NA Heterozygous GERMANY NA 133
p.Asp1115Gly	c.3344A>G	27	1115	cb EGF-like #13	Ca2+ binding	Small rearrangement	Ts	A->G	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 333 GER01BER F0007 I27 Female Heterozygous GERMANY NA 80 1004 GER01BER F0066 I0001 NA Heterozygous GERMANY NA 129 2997 UKD05LON F0202 I0001 Female Heterozygous U.K. NA 238
p.Cys1117Arg	c.3349T>C	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 65 USA05HOU F0012 I250 Male Heterozygous U.S.A NA 26 2589 FRA01BOU F0846 I0882 Female Heterozygous FRANCE NA 207 3143 CHI08BEI F0013 I0001 Male Heterozygous CHINA NA 244
p.Cys1117Tyr	c.3350G>A	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 106 AUS01NAD F0007 I01 NA Heterozygous AUSTRALIA NA 114 28 USA03STA F0002 I783 Female Heterozygous U.S.A Type IV d 12
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.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.Cys1124Phe	c.3371G>T	27	1124	cb EGF-like #13	Disulfide bonds 1124-1138 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3255 NET05GRO F0007 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg1125X	c.3373C>T	27	1125	cb EGF-like #13		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 547 USA04NOR F0014 I3599 Male Heterozygous U.S.A NA 102 1047 BEL01GHE F0173 I01 NA Heterozygous FRANCE NA 122 1102 GER03HAN F0037 I01 NA Heterozygous GERMANY NA 133 1330 FRA01BOU F0209 I0248 Female Heterozygous FRANCE NA 145 1380 UKD05LON F0143 I01 NA Heterozygous U.K. NA 96 1513 ITA01FLO F0041 I01 NA Heterozygous ITALIA NA 146 2003 TAI01TAI F0022 I0001 NA Heterozygous TAIWAN NA 183 2064 SWI01ZUR F0028 I01 NA Heterozygous SWITZERLAND NA 188 2065 SWI01ZUR F0029 I01 NA Heterozygous SWITZERLAND NA 188 2444 FRA01BOU F0701 I0738 Male Heterozygous FRANCE NA 207 3124 GER03HAN F0102 I0001 Male Heterozygous GERMANY NA 243
p.Gly1127Val	c.3380G>T	27	1127	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2629 FRA01BOU F0888 I0924 Male Heterozygous FRANCE NA 207
p.Cys1129Tyr	c.3386G>A	27	1129	cb EGF-like #13	Disulfide bonds 1117-1129 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 200 GER03HAN F0008 I01 Female Heterozygous GERMANY NA 66
p.His1130IlefsX32	c.3388delC	27	1130	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1161	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 661 FRA01BOU F0217 I0256 Male Heterozygous FRANCE NA 64 769 BEL01GHE F0094 I01 NA Heterozygous BELGIUM NA 121 770 BEL01GHE F0095 I01 NA Heterozygous BELGIUM NA 121 771 BEL01GHE F0096 I01 NA Heterozygous BELGIUM NA 121
p.Asn1131Tyr	c.3391A>T	27	1131	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 83 USA02OMA F0006 I498 NA Heterozygous U.S.A NA 35
p.Asn1131Lys	c.3393C>G	27	1131	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1315 FRA01BOU F0355 I0393 Male Heterozygous FRANCE NA 145
p.Glu1133AlafsX3	c.3398_3408del	27	1133	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1135	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2910 BEL01GHE F0222 I0001 NA Heterozygous BELGIUM NA 225
p.Tyr1136X	c.3408C>G	27	1136	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1514 ITA01FLO F0042 I01 NA Heterozygous ITALIA NA 146 2004 TAI01TAI F0023 I0001 NA Heterozygous TAIWAN NA 183
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01BAL F0002 I01 Female Heterozygous U.S.A NA 1 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
p.Cys1138Arg	c.3412T>C	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 503 FRA01BOU F0160 I0199 Female Heterozygous FRANCE NA 64 754 BEL01GHE F0139 I01 NA Heterozygous BELGIUM NA 122
p.Cys1138Gly	c.3412T>G	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 651 FRA01BOU F0149 I0188 Male Heterozygous FRANCE NA 64
p.Cys1138Tyr	c.3413G>A	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1381 UKD05LON F0144 I01 NA Heterozygous U.K. NA 96
p.Cys1138Ser	c.3413G>C	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1625 FRA01BOU F0404 I0442 Male Heterozygous FRANCE NA 145
p.Cys1140Phe	c.3419G>T	27	1140	cb EGF-like #13	Disulfide bonds 1140-1153 (C5)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 750 BEL01GHE F0135 I01 NA Heterozygous BELGIUM NA 122
p.Cys1140X	c.3420C>A	27	1140	cb EGF-like #13	Disulfide bonds 1140-1153 (C5)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 839 UKD05LON F0047 I01 NA Heterozygous U.K. NA 96
p.Pro1141Leu	c.3422C>T	27	1141	cb EGF-like #13		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3360 ISR01HAI F0001 I0001 Male Heterozygous ISRAEL NA 284 170 USA08PIT F0007 I01 NA Heterozygous U.S.A NA 49 2597 FRA01BOU F0855 I0891 Female Heterozygous FRANCE NA 207
p.His1144_His1144del	c.3432_3434delTCA	27	1144	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2099 KOR01SEO F0018 I0001 NA Heterozygous S. KOREA NA 189
p.Asn1149GlnfsX10	c.3444dup	27	1149	cb EGF-like #13	N-linked glycosylation	Small rearrangement	Fr.	Stop at 1158	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 237 USA03STA F0025 I01 NA Heterozygous U.S.A NA 54
p.Ala1152Val	c.3455C>T	27	1152	cb EGF-like #13		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2005 TAI01TAI F0024 I0001 NA Heterozygous TAIWAN NA 183
p.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36
p.Cys1153Ser	c.3458G>C	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 919 ITA02PAV F0033 I01 Female Heterozygous ITALIA NA 125 1305 FRA01BOU F0118 I0156 Male Heterozygous FRANCE NA 145
p.Cys1153Phe	c.3458G>T	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2275 FRA01BOU F0531 I0568 Male Heterozygous FRANCE NA 207
p.Asp1155Asn	c.3463G>A	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 79 USA05HOU F0013 I62 NA Heterozygous U.S.A Type IV 34 697 AUS02WES F0011 I01 NA Heterozygous AUSTRALIA NA 114 1382 UKD05LON F0145 I01 NA Heterozygous U.K. NA 96 1639 FRA01BOU F0432 I0469 Male Heterozygous FRANCE NA 145 2390 FRA01BOU F0647 I0684 Female Heterozygous FRANCE NA 207 2631 FRA01BOU F0890 I0926 Male Heterozygous FRANCE NA 207
p.Asp1155His	c.3463G>C	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1611 FRA01BOU F0359 I0397 Female Heterozygous FRANCE NA 145
p.Asp1155Gly	c.3464A>G	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2994 UKD05LON F0199 I0001 NA Heterozygous U.K. NA 238 3017 NET03LEI F0004 I0001 NA Heterozygous NETHERLAND NA 219
p.Asp1155AlafsX32	c.3464_3480del	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Fr.	Stop at 1186	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 29 USA03STA F0003 I773 NA Heterozygous U.S.A Type II 12