The UMD-FBN1 mutations database
Arg to Cys mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	17
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 532 USA04NOR F0001 I1095 NA Heterozygous U.S.A NA 101 445 GER01BER F0021 I15 Male Heterozygous GERMANY NA 95 446 GER01BER F0022 I55 Male Heterozygous GERMANY NA 95 447 GER01BER F0023 I46 Male Heterozygous GERMANY NA 95 510 FRA01BOU F0130 I0168 Female Heterozygous FRANCE NA 64 1473 FRA01BOU F0405 I0443 Male Heterozygous FRANCE NA 145 1566 FRA01BOU F0132 I0170 Female Heterozygous FRANCE NA 145 1864 CHI07SHA F0001 I0001 Female Homozygous CHINA NA 162 2627 FRA01BOU F0886 I0922 Female Heterozygous FRANCE NA 207 3079 UKD09SAL F0001 I0001 NA Heterozygous U.K. NA 242 3189 CHI15SHI F0001 I0001 Female Heterozygous CHINA NA 250 3190 CHI15SHI F0001 I0002 Male Heterozygous CHINA NA 250 3191 CHI15SHI F0001 I0003 Male Heterozygous CHINA NA 250 3192 CHI15SHI F0001 I0005 Female Heterozygous CHINA NA 250 3193 CHI15SHI F0001 I0006 Male Heterozygous CHINA NA 250 3249 CHI15SHI F0001 I0004 Male Heterozygous CHINA NA 250 3268 NET05GRO F0020 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	18
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 85 UKD03DUN F0001 I01 Male Heterozygous U.K. NA 37 37 FIN01HEL F0014 I01 Male Heterozygous FINLAND NA 18 411 BEL01GHE F0046 I0916 Male Heterozygous BELGIUM NA 89 416 BEL01GHE F0051 I2903 Female Heterozygous BELGIUM NA 89 612 UKD05LON F0014 I01 Male Heterozygous U.K. NA 108 1444 FRA01BOU F0112 I0150 Male Heterozygous FRANCE NA 145 1565 FRA01BOU F0117 I0155 Male Heterozygous FRANCE NA 145 1664 CHI05HAN F0004 I0001 Male Heterozygous CHINA NA 154 1910 CHI05HAN F0008 I0001 Male Heterozygous CHINA NA 177 1985 TAI01TAI F0004 I0001 NA Heterozygous TAIWAN NA 183 2484 FRA01BOU F0741 I0778 Male Heterozygous FRANCE NA 207 2595 FRA01BOU F0853 I0889 Male Heterozygous FRANCE NA 207 2666 FRA01BOU F0929 I0965 Female Heterozygous FRANCE NA 207 2944 USA03STA F0088 I0001 Male Heterozygous U.S.A. NA 228 2945 USA03STA F0088 I0002 Female Heterozygous U.S.A. NA 228 2946 USA03STA F0088 I0003 Female Heterozygous U.S.A. NA 228 3080 UKD09SAL F0002 I0001 NA Heterozygous U.K. NA 242 3269 NET05GRO F0021 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg240Cys	c.718C>T	6	240	Hybrid module#01		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 133 BEL01GHE F0007 I01 Female Heterozygous BELGIUM NA 89 533 USA04NOR F0002 I1333 NA Heterozygous U.S.A NA 101 614 UKD05LON F0016 I01 Male Heterozygous U.K. NA 108 691 AUS02WES F0005 I01 NA Heterozygous AUSTRALIA NA 116 1086 AUS02WES F0053 I01 NA Heterozygous AUSTRALIA NA 134 1618 FRA01BOU F0382 I0420 Male Heterozygous FRANCE NA 145 1787 UKD07WIL F0071 I0001 NA Heterozygous U.K. NA 157 1903 IND01AMR F0001 I0001 Male Heterozygous INDIA NA 172 2611 FRA01BOU F0869 I0905 Female Heterozygous FRANCE NA 207 2777 FRA01BOU F1045 I1081 Male Heterozygous FRANCE NA 207
p.Arg485Cys	c.1453C>T	11	485	EGF-like #04		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1021 FRA01BOU F0305 I0344 Female Heterozygous FRANCE NA 145 1807 NET04NIJ F0001 I0001 Male Homozygous NETHERLAND NA 158 1987 TAI01TAI F0006 I0001 NA Heterozygous TAIWAN NA 183
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	18
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 135 BEL01GHE F0005 I01 Male Heterozygous BELGIUM NA 89 112 UKD01EDI F0006 I01 Female Heterozygous U.K. NA 41 228 USA03STA F0016 I01 NA Heterozygous U.S.A NA 54 559 USA04NOR F0013 I3675 Male Heterozygous U.S.A NA 102 615 UKD05LON F0017 I01 Male Heterozygous U.K. NA 108 616 UKD05LON F0018 I01 Female Heterozygous U.K. NA 108 726 BEL01GHE F0113 I01 NA Heterozygous BELGIUM NA 122 1069 AUS02WES F0039 I01 NA Heterozygous AUSTRALIA NA 134 1131 AUS02WES F0059 I01 Male Heterozygous AUSTRALIA NA 134 1371 UKD05LON F0135 I01 NA Heterozygous U.K. NA 96 1665 CHI05HAN F0005 I0001 Male Heterozygous CHINA NA 154 1955 GER03HAN F0067 I0007 NA Heterozygous GERMANY NA 182 2212 FRA01BOU F0469 I0506 Female Heterozygous FRANCE NA 207 2717 FRA01BOU F0983 I1019 Male Heterozygous FRANCE NA 207 2721 FRA01BOU F0987 I1023 Female Heterozygous FRANCE NA 207 3083 UKD09SAL F0005 I0001 NA Heterozygous U.K. NA 242 3084 UKD09SAL F0005 I0002 NA Heterozygous U.K. NA 242 3270 NET05GRO F0022 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg627Cys	c.1879C>T	15	627	cb EGF-like #06		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 75 USA07POR F0002 I03 NA Heterozygous U.S.A NA 30 12 UKD01EDI F0001 I50 Female Heterozygous U.K. NA 7 564 UKD04OXF F0009 I07 NA Heterozygous U.K. NA 88 1035 FRA01BOU F0180 I0219 Male Heterozygous FRANCE NA 145 1094 GER03HAN F0029 I01 NA Heterozygous GERMANY NA 133 1575 FRA01BOU F0223 I0262 Female Heterozygous FRANCE NA 145 1619 FRA01BOU F0384 I0422 Male Heterozygous FRANCE NA 145 1666 CHI05HAN F0006 I0001 Female Heterozygous CHINA NA 154 1813 GER05DOR F0008 I0001 NA Heterozygous GERMANY NA 147 2199 FRA01BOU F0455 I0492 Male Heterozygous FRANCE NA 207 2207 FRA01BOU F0464 I0501 Male Heterozygous FRANCE NA 207 2492 FRA01BOU F0748 I0785 Male Heterozygous FRANCE NA 207 2561 FRA01BOU F0820 I0856 Female Heterozygous FRANCE NA 207 2746 FRA01BOU F1014 I1050 Female Heterozygous FRANCE NA 207 2767 FRA01BOU F1035 I1071 Male Heterozygous FRANCE NA 207 3198 ITA01FLO F0107 I0001 Male Heterozygous ITALIA NA 253
p.Arg650Cys	c.1948C>T	15	650	cb EGF-like #06		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2388 FRA01BOU F0645 I0682 Female Heterozygous FRANCE NA 207 2495 FRA01BOU F0751 I0788 Female Heterozygous FRANCE NA 207 2947 USA03STA F0089 I0001 Female Heterozygous U.S.A. NA 228 2948 USA03STA F0089 I0002 Female Heterozygous U.S.A. NA 228
p.Arg954Cys	c.2860C>T	24	954	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1871 CHI10BEI F0001 I0001 Male Heterozygous CHINA NA 166 833 UKD05LON F0041 I01 NA Heterozygous U.K. NA 96 1059 AUS02WES F0029 I01 NA Heterozygous AUSTRALIA NA 134 1573 FRA01BOU F0206 I0245 Female Heterozygous FRANCE NA 145 2001 TAI01TAI F0020 I0001 NA Heterozygous TAIWAN NA 183 3134 GER03HAN F0112 I0001 Female Heterozygous GERMANY NA 243
p.Arg974Cys	c.2920C>T	24	974	TGFBP#03		Small rearrangement	Ts	C->T	24
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 835 UKD05LON F0043 I01 NA Heterozygous U.K. NA 96 1282 FRA01BOU F0141 I0180 Male Heterozygous FRANCE NA 145 1737 UKD07WIL F0021 I0001 NA Heterozygous U.K. NA 157 2486 FRA01BOU F0742 I0779 NA Heterozygous FRANCE NA 207 2534 FRA01BOU F0790 I0827 Male Heterozygous FRANCE NA 207 2566 FRA01BOU F0825 I0861 Female Heterozygous FRANCE NA 207 2587 FRA01BOU F0844 I0880 Male Heterozygous FRANCE NA 207 2653 FRA01BOU F0915 I0951 Male Heterozygous FRANCE NA 207 2977 CHI08BEI F0006 I0001 Female Heterozygous CHINA NA 237 2978 CHI08BEI F0006 I0002 Female Heterozygous CHINA NA 237 2979 CHI08BEI F0006 I0003 Female Heterozygous CHINA NA 237 2980 CHI08BEI F0006 I0004 Male Heterozygous CHINA NA 237 2981 CHI08BEI F0006 I0005 Female Heterozygous CHINA NA 237 2982 CHI08BEI F0006 I0006 Male Heterozygous CHINA NA 237 2983 CHI08BEI F0006 I0007 Female Heterozygous CHINA NA 237 2984 CHI08BEI F0006 I0008 Male Heterozygous CHINA NA 237 2985 CHI08BEI F0006 I0009 Female Heterozygous CHINA NA 237 2986 CHI08BEI F0006 I0010 Male Heterozygous CHINA NA 237 2987 CHI08BEI F0006 I0011 Male Heterozygous CHINA NA 237 2988 CHI08BEI F0006 I0012 Female Heterozygous CHINA NA 237 2989 CHI08BEI F0006 I0013 Male Heterozygous CHINA NA 237 2990 CHI08BEI F0006 I0014 Female Heterozygous CHINA NA 237 2991 CHI08BEI F0006 I0015 Male Heterozygous CHINA NA 237 2992 CHI08BEI F0006 I0016 Male Heterozygous CHINA NA 237
p.Arg1530Cys	c.4588C>T	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	C->T	19
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3350 GER07COL F0007 I0001 Female Heterozygous SAUDI ARABIA NA 281 305 AUS01NAD F0019 I42 Male Heterozygous AUSTRALIA NA 114 443 BEL01GHE F0069 I0038 NA Heterozygous BELGIUM NA 89 1087 AUS02WES F0054 I01 NA Heterozygous AUSTRALIA NA 134 1667 CHI05HAN F0007 I0001 Female Heterozygous CHINA NA 154 1687 NOR01OSL F0017 I0001 NA Heterozygous NORWAY NA 148 1798 UKD07WIL F0082 I0001 NA Heterozygous U.K. NA 157 2104 KOR01SEO F0024 I0001 NA Heterozygous S. KOREA NA 189 2131 USA05HOU F0023 I0001 Male Heterozygous MEXICO NA 194 2209 FRA01BOU F0466 I0503 Male Heterozygous FRANCE NA 207 2302 FRA01BOU F0558 I0595 Female Heterozygous FRANCE NA 207 2432 FRA01BOU F0689 I0726 Male Heterozygous FRANCE NA 207 2460 FRA01BOU F0717 I0754 Female Heterozygous FRANCE NA 207 2464 FRA01BOU F0721 I0758 Male Heterozygous FRANCE NA 207 2814 USA05HOU F0023 I0002 Female Heterozygous MEXICO NA 194 2815 USA05HOU F0023 I0003 Male Heterozygous MEXICO NA 194 2816 USA05HOU F0023 I0004 Male Heterozygous MEXICO NA 194 3227 UKD05LON F0207 I0001 NA Heterozygous U.K. NA 265 3271 NET05GRO F0023 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg1820Cys	c.5458C>T	44	1820	cb EGF-like #26		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2645 FRA01BOU F0907 I0943 Male Heterozygous FRANCE NA 207
p.Arg1832Cys	c.5494C>T	44	1832	cb EGF-like #26	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 143 UKD03DUN F0007 I01 NA Heterozygous U.K. NA 70
p.Arg1915Cys	c.5743C>T	46	1915	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2613 FRA01BOU F0871 I0907 Female Heterozygous FRANCE NA 207
p.Arg2108Cys	c.6322C>T	51	2108	TGFBP#06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2511 FRA01BOU F0766 I0803 Male Heterozygous FRANCE NA 207
p.Arg2150Cys	c.6448C>T	52	2150	cb EGF-like #32	Ca2+ binding	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1922 UKD07WIL F0098 I0001 NA Heterozygous U.K. NA 178
p.Arg2576Cys	c.7726C>T	62	2576	cb EGF-like #41		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2371 FRA01BOU F0628 I0665 Male Heterozygous FRANCE NA 207 3194 USA20SAN F0001 I0001 Female Homozygous MEXICO NA 252 3195 USA20SAN F0001 I0002 Female Heterozygous MEXICO NA 252 3272 NET05GRO F0024 I0001 NA Heterozygous NETHERLAND NA 272
p.Arg2680Cys	c.8038C>T	63	2680	cb EGF-like #43		Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 59 USA05HOU F0004 I01 Male Heterozygous U.S.A NA 24 327 GER01BER F0019 I46 Male Heterozygous GERMANY NA 82 1429 UKD05LON F0192 I01 NA Heterozygous U.K. NA 96 2427 FRA01BOU F0684 I0721 Female Heterozygous FRANCE NA 207 2655 FRA01BOU F0916 I0952 Female Heterozygous FRANCE NA 207