The UMD-FBN1 mutations database
Arg to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg165X	c.493C>T	5	165	EGF-like#03		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1088 GER03HAN F0023 I01 NA Heterozygous GERMANY NA 133 1950 GER03HAN F0062 I0002 NA Heterozygous GERMANY NA 182 2568 FRA01BOU F0827 I0863 Female Heterozygous FRANCE NA 207
p.Arg215X	c.643C>T	6	215	Hybrid module#01		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 294 JAP03OSA F0001 I0001 Male Heterozygous JAPAN NA 55 741 BEL01GHE F0127 I01 NA Heterozygous BELGIUM NA 122 756 BEL01GHE F0081 I01 NA Heterozygous BELGIUM NA 121 821 UKD05LON F0029 I01 NA Heterozygous U.K. NA 96 1090 GER03HAN F0025 I01 NA Heterozygous GERMANY NA 133 1358 FRA01BOU F0280 I0319 Male Heterozygous FRANCE NA 145 2512 FRA01BOU F0768 I0805 Male Heterozygous FRANCE NA 207 2599 FRA01BOU F0857 I0893 Female Heterozygous FRANCE NA 207
p.Arg364X	c.1090C>T	9	364	TGFBP#01		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1367 UKD05LON F0131 I01 NA Heterozygous U.K. NA 96 342 UKD03DUN F0009 I01 NA Heterozygous U.K. NA 84 484 FRA01BOU F0169 I0208 Male Heterozygous FRANCE NA 64 794 FRA01BOU F0301 I0340 Female Heterozygous FRANCE NA 145 797 BEL01GHE F0141 I01 NA Heterozygous BELGIUM NA 122 1014 FRA01BOU F0207 I0246 Female Heterozygous FRANCE NA 145 1675 NOR01OSL F0005 I0001 NA Heterozygous NORWAY NA 148
p.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female Heterozygous FRANCE NA 64 300 FRA01BOU F0165 I0204 Male Heterozygous FRANCE NA 64 597 GER03HAN F0011 I02 Male Heterozygous GERMANY NA 107 1489 ITA01FLO F0019 I01 NA Heterozygous ITALIA NA 146 1831 JAP01YOK F0005 I0001 NA Heterozygous JAPAN NA 149 2052 SWI01ZUR F0015 I01 NA Heterozygous SWITZERLAND NA 188 2440 FRA01BOU F0697 I0734 Male Heterozygous FRANCE NA 207 3315 NET05GRO F0067 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg516X	c.1546C>T	12	516	cb EGF-like #03		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3317 NET05GRO F0069 I0001 NA Heterozygous NETHERLAND NA 272 657 FRA01BOU F0166 I0205 Female Heterozygous FRANCE NA 64 901 ITA02PAV F0015 I01 Male Heterozygous ITALIA NA 125 2054 SWI01ZUR F0017 I01 NA Heterozygous SWITZERLAND NA 188 2738 FRA01BOU F1005 I1041 Female Heterozygous FRANCE NA 207 2934 BEL01GHE F0254 I0001 NA Heterozygous BELGIUM NA 225
p.Arg529X	c.1585C>T	12	529	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 209 USA01BAL F0030 I01 Male Heterozygous U.S.A Type II or IV ? 60 1460 FRA01BOU F0111 I0149 Male Heterozygous FRANCE NA 145 1676 NOR01OSL F0006 I0001 NA Heterozygous NORWAY NA 155 1677 NOR01OSL F0007 I0001 NA Heterozygous NORWAY NA 148 1954 GER03HAN F0066 I0006 NA Heterozygous GERMANY NA 182 1988 TAI01TAI F0007 I0001 NA Heterozygous TAIWAN NA 183 2248 FRA01BOU F0503 I0540 Male Heterozygous FRANCE NA 207 3046 JAP02TOK F0023 I0001 NA Heterozygous JAPAN NA 229
p.Arg565X	c.1693C>T	13	565	cb EGF-like #04		Small rearrangement	Ts	C->T	13
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 74 USA07POR F0001 I03 NA Heterozygous U.S.A NA 30 516 USA01BAL F0033 I28 Female Heterozygous U.S.A NA 81 902 ITA02PAV F0016 I01 Female Heterozygous ITALIA NA 125 903 ITA02PAV F0017 I01 Male Heterozygous ITALIA NA 125 904 ITA02PAV F0018 I01 Female Heterozygous ITALIA NA 125 1024 FRA01BOU F0307 I0346 Male Heterozygous FRANCE NA 145 1037 BEL01GHE F0163 I01 NA Heterozygous BELGIUM NA 122 1369 UKD05LON F0133 I01 NA Heterozygous U.K. NA 96 1571 FRA01BOU F0194 I0233 Female Heterozygous FRANCE NA 145 1812 GER05DOR F0007 I0001 NA Heterozygous GERMANY NA 147 1956 GER03HAN F0068 I0008 NA Heterozygous GERMANY NA 182 2055 SWI01ZUR F0019 I01 NA Heterozygous SWITZERLAND NA 188 2925 BEL01GHE F0244 I0001 NA Heterozygous BELGIUM NA 225
p.Arg861X	c.2581C>T	21	861	Hybrid motif #02		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 232 USA03STA F0020 I01 NA Heterozygous U.S.A NA 54 462 GER01BER F0040 I60 Male Heterozygous GERMANY NA 95 582 USA03STA F0070 I993 NA Heterozygous U.S.A Type III 104 795 FRA01BOU F0299 I0338 Female Heterozygous FRANCE NA 145 830 UKD05LON F0038 I01 NA Heterozygous U.K. NA 96 831 UKD05LON F0039 I01 NA Heterozygous U.K. NA 96 913 ITA02PAV F0027 I01 Male Heterozygous ITALIA NA 125 1930 CHI01HKO F0008 I0001 NA Heterozygous CHINA NA 181 2061 SWI01ZUR F0025 I01 NA Heterozygous SWITZERLAND NA 188 2333 FRA01BOU F0589 I0626 Male Heterozygous FRANCE NA 207 2874 POR01POR F0011 I0001 Male Heterozygous PORTUGAL NA 224
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.Arg1523X	c.4567C>T	36	1523	cb EGF-like #22		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 322 USA01BAL F0034 I27 NA Heterozygous U.S.A NA 81 494 FRA01BOU F0127 I0165 Female Heterozygous FRANCE NA 64 587 USA03STA F0075 I997 NA Heterozygous U.S.A Type II 104 1052 BEL01GHE F0178 I01 NA Heterozygous FRANCE NA 122 1964 GER03HAN F0076 I0016 NA Heterozygous GERMANY NA 182 1965 GER03HAN F0077 I0017 NA Heterozygous GERMANY NA 182 2414 FRA01BOU F0671 I0708 Male Heterozygous FRANCE NA 207 2581 FRA01BOU F0839 I0875 Female Heterozygous FRANCE NA 207
p.Arg1539X	c.4615C>T	37	1539	TGFBP#04		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 338 GER01BER F0013 I27 Male Heterozygous GERMANY NA 80 389 BEL01GHE F0024 I1183 Female Heterozygous BELGIUM NA 89 1463 FRA01BOU F0376 I0414 Female Heterozygous FRANCE NA 145 1518 ITA01FLO F0046 I01 NA Heterozygous ITALIA NA 146 2105 KOR01SEO F0025 I0001 NA Heterozygous S. KOREA NA 189 2585 FRA01BOU F0842 I0878 Male Heterozygous FRANCE NA 207 2926 BEL01GHE F0245 I0001 NA Heterozygous BELGIUM NA 225 2933 BEL01GHE F0252 I0001 NA Heterozygous BELGIUM NA 225 3160 CHI08BEI F0024 I0001 Male Heterozygous CHINA NA 244 3161 CHI08BEI F0024 I0002 Female Heterozygous CHINA NA 244
p.Arg1541X	c.4621C>T	37	1541	TGFBP#04	RGD	Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 279 UKD04OXF F0005 I05 NA Heterozygous U.K. Type I or II ? 58 391 BEL01GHE F0026 I2036 Male Heterozygous BELGIUM NA 89 686 UKD06GLA F0001 I01 Female Heterozygous U.K. NA 113 774 BEL01GHE F0100 I01 NA Heterozygous BELGIUM NA 121 844 UKD05LON F0052 I01 NA Heterozygous U.K. NA 96 934 ITA02PAV F0048 I01 NA Heterozygous ITALIA NA 125 1107 GER03HAN F0043 I01 NA Heterozygous GERMANY NA 133 1433 UKD05LON F0196 I01 NA Heterozygous U.K. NA 96 1519 ITA01FLO F0047 I01 NA Heterozygous ITALIA NA 146 2069 SWI01ZUR F0033 I01 NA Heterozygous SWITZERLAND NA 188 2685 FRA01BOU F0948 I0984 Male Heterozygous FRANCE NA 207 2903 BEL01GHE F0215 I0001 NA Heterozygous BELGIUM NA 225
p.Arg1596X	c.4786C>T	38	1596	TGFBP#04		Small rearrangement	Ts	C->T	7
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 388 BEL01GHE F0023 I1766 Female Heterozygous BELGIUM NA 89 1569 FRA01BOU F0181 I0220 Male Heterozygous FRANCE NA 145 2070 SWI01ZUR F0034 I01 NA Heterozygous SWITZERLAND NA 188 2071 SWI01ZUR F0035 I01 NA Heterozygous SWITZERLAND NA 188 2327 FRA01BOU F0583 I0620 Male Heterozygous FRANCE NA 207 2586 FRA01BOU F0843 I0879 Female Heterozygous FRANCE NA 207 3050 JAP02TOK F0027 I0001 NA Heterozygous JAPAN NA 229
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	12
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 309 AUS01NAD F0020 I08 Female Heterozygous AUSTRALIA NA 114 373 UKD05LON F0010 I13 NA Heterozygous U.K. NA 96 392 BEL01GHE F0027 I2369 Male Heterozygous BELGIUM NA 89 588 USA03STA F0076 I186 NA Heterozygous U.S.A Type II 104 936 ITA02PAV F0050 I01 NA Heterozygous ITALIA NA 125 1343 FRA01BOU F0354 I0392 Male Heterozygous FRANCE NA 145 1576 FRA01BOU F0232 I0271 Male Heterozygous FRANCE NA 145 1690 NOR01OSL F0020 I0001 NA Heterozygous NORWAY NA 155 1691 NOR01OSL F0021 I0001 NA Heterozygous NORWAY NA 148 1967 GER03HAN F0079 I0019 NA Heterozygous GERMANY NA 182 2016 TAI01TAI F0036 I0001 NA Heterozygous TAIWAN NA 183 2229 FRA01BOU F0485 I0522 Male Heterozygous FRANCE NA 207
p.Arg1790X	c.5368C>T	43	1790	cb EGF-like #25	Ca2+ binding	Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 941 ITA02PAV F0055 I01 NA Heterozygous ITALIA NA 125 1642 FRA01BOU F0435 I0472 Male Heterozygous FRANCE NA 145 1763 UKD07WIL F0047 I0001 NA Heterozygous U.K. NA 157 1845 JAP01YOK F0019 I0001 NA Heterozygous JAPAN NA 149 1936 CHI01HKO F0014 I0001 NA Heterozygous CHINA NA 181 2074 SWI01ZUR F0038 I01 NA Heterozygous SWITZERLAND NA 188 2075 SWI01ZUR F0039 I01 NA Heterozygous SWITZERLAND NA 188 2107 KOR01SEO F0027 I0001 NA Heterozygous S. KOREA NA 189 2241 FRA01BOU F0497 I0534 Female Heterozygous FRANCE NA 207 2331 FRA01BOU F0587 I0624 Female Heterozygous FRANCE NA 207
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.Arg2057X	c.6169C>T	50	2057	TGFBP#06	conserved AA in TGFBP	Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 253 USA03STA F0040 I01 NA Heterozygous U.S.A NA 54 1538 ITA01FLO F0066 I01 NA Heterozygous ITALIA NA 146 2473 FRA01BOU F0730 I0767 Male Heterozygous FRANCE NA 207
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 351 JAP03OSA F0007 I0001 Male Heterozygous JAPAN NA 55 499 FRA01BOU F0154 I0193 Female Heterozygous FRANCE NA 64 805 BEL01GHE F0149 I01 NA Heterozygous BELGIUM NA 122 868 UKD05LON F0076 I01 NA Heterozygous U.K. NA 96 2475 FRA01BOU F0732 I0769 Female Heterozygous FRANCE NA 207 2479 FRA01BOU F0736 I0773 Male Heterozygous FRANCE NA 207 2636 FRA01BOU F0897 I0933 Female Heterozygous FRANCE NA 207 2757 FRA01BOU F1025 I1061 Male Heterozygous FRANCE NA 207 3051 JAP02TOK F0028 I0001 NA Heterozygous JAPAN NA 229 3139 CHI08BEI F0009 I0001 Male Heterozygous CHINA NA 244 3200 ITA01FLO F0109 I0001 Female Heterozygous ITALIA NA 253
p.Arg2394X	c.7180C>T	57	2394	TGFBP #07		Small rearrangement	Ts	C->T	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 283 UKD04OXF F0008 I08 NA Heterozygous U.K. Type I or II ? 58 743 BEL01GHE F0129 I01 NA Heterozygous BELGIUM NA 122 1068 AUS02WES F0038 I01 NA Heterozygous AUSTRALIA NA 134 1334 FRA01BOU F0318 I0357 Male Heterozygous FRANCE NA 145 1626 FRA01BOU F0406 I0444 Male Heterozygous FRANCE NA 145 1802 UKD07WIL F0086 I0001 NA Heterozygous U.K. NA 157 2116 KOR01SEO F0037 I0001 NA Heterozygous S. KOREA NA 189 2422 FRA01BOU F0680 I0717 Male Heterozygous FRANCE NA 207 2531 FRA01BOU F0787 I0824 Male Heterozygous FRANCE NA 207 2607 FRA01BOU F0865 I0901 Male Heterozygous FRANCE NA 207 2649 FRA01BOU F0911 I0947 Male Heterozygous FRANCE NA 207
p.Arg2414X	c.7240C>T	58	2414	cb EGF-like #37		Small rearrangement	Ts	C->T	8
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 540 USA04NOR F0007 I1605 NA Heterozygous U.S.A NA 101 593 USA03STA F0082 I938 NA Heterozygous U.S.A Type II 104 2080 SWI01ZUR F0044 I01 NA Heterozygous SWITZERLAND NA 188 2081 SWI01ZUR F0045 I01 NA Heterozygous SWITZERLAND NA 188 2439 FRA01BOU F0696 I0733 Female Heterozygous FRANCE NA 207 2530 FRA01BOU F0786 I0823 Male Heterozygous FRANCE NA 207 2683 FRA01BOU F0946 I0982 Male Heterozygous FRANCE NA 207 3052 JAP02TOK F0029 I0001 NA Heterozygous JAPAN NA 229
p.Arg2694X	c.8080C>T	64	2694	COOH unique region		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 703 AUS02WES F0017 I01 NA Heterozygous AUSTRALIA NA 114 786 BEL01GHE F0099 I01 NA Heterozygous BELGIUM NA 122 1054 BEL01GHE F0180 I01 NA Heterozygous FRANCE NA 122 1292 FRA01BOU F0256 I0295 Male Heterozygous FRANCE NA 145 1558 ITA01FLO F0084 I01 NA Heterozygous ITALIA NA 146 1669 CHI06FUJ F0001 I0001 NA Heterozygous CHINA NA 156 2033 TAI01TAI F0053 I0001 NA Heterozygous TAIWAN NA 183 2435 FRA01BOU F0692 I0729 Male Heterozygous FRANCE NA 207 2546 FRA01BOU F0804 I0841 Female Heterozygous FRANCE NA 207
p.Arg2776X	c.8326C>T	65	2776	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 38 UKD01EDI F0003 I58 Female Heterozygous U.K. NA 19 1641 FRA01BOU F0434 I0471 Female Heterozygous FRANCE NA 145