The UMD-FBN1 mutations database
Mutations involving exon 20

    Request ID:

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.Ile766_Asp952del	c.2294_2854del	18-19	765	cb EGF-like #08	Ca2+ binding	Large rearrangement Deletion from exon 19 to 23	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2245 FRA01BOU F0500 I0537 Male Heterozygous FRANCE NA 207
p.Asp807AlafsX40	c.2420delA	19-20	807	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1313 FRA01BOU F0291 I0330 Female Heterozygous FRANCE NA 145
p.Glu810X	c.2428G>T	20	810	cb EGF-like #09	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 911 ITA02PAV F0025 I01 Female Heterozygous ITALIA NA 125
p.Cys811Tyr	c.2432G>A	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2350 FRA01BOU F0606 I0643 Male Heterozygous FRANCE NA 207 2904 BEL01GHE F0216 I0001 NA Heterozygous BELGIUM NA 225
p.Cys811X	c.2433C>A	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3323 BEL01GHE F0258 I0001 Female Heterozygous POLAND NA 273 1993 TAI01TAI F0012 I0001 NA Heterozygous TAIWAN NA 183
p.Cys811Trp	c.2433C>G	20	811	cb EGF-like #09	Disulfide bonds 811-821 (C1)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 764 BEL01GHE F0089 I01 NA Heterozygous BELGIUM NA 121
p.Glu812X	c.2434G>T	20	812	cb EGF-like #09		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 734 BEL01GHE F0121 I01 NA Heterozygous BELGIUM NA 122
p.Ser813X	c.2438C>G	20	813	cb EGF-like #09		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 295 JAP03OSA F0002 I0001 Female Heterozygous JAPAN NA 55
p.Cys816Arg	c.2446T>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 731 BEL01GHE F0118 I01 NA Heterozygous BELGIUM NA 122 1503 ITA01FLO F0032 I01 NA Heterozygous ITALIA NA 146
p.Cys816Ser	c.2447G>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 105 AUS01NAD F0006 I01 Male Heterozygous AUSTRALIA NA 114
p.Cys816Phe	c.2447G>T	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1681 NOR01OSL F0011 I0001 NA Heterozygous NORWAY NA 148
p.Cys816X	c.2448C>A	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1451 FRA01BOU F0346 I0384 Female Heterozygous FRANCE NA 145
p.Gly819Glu	c.2456G>A	20	819	cb EGF-like #09	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1891 FRA03MON F0231 I0001 Male Heterozygous FRANCE NA 191
p.Cys821Tyr	c.2462G>A	20	821	cb EGF-like #09	Disulfide bonds 811-821 (C3)	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1994 TAI01TAI F0013 I0001 NA Heterozygous TAIWAN NA 183 2121 CHI11FUZ F0001 I0001 NA Heterozygous CHINA NA 190 2338 FRA01BOU F0594 I0631 Female Heterozygous FRANCE NA 207
p.Cys821X	c.2463C>A	20	821	cb EGF-like #09	Disulfide bonds 811-821 (C3)	Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 680 FRA01BOU F0254 I0293 Female Heterozygous FRANCE NA 145
p.Asn823ThrfsX24	c.2466delG	20	822	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2523 FRA01BOU F0779 I0816 Female Heterozygous FRANCE NA 207
p.Asn823ThrfsX24	c.2468delA	20	823	cb EGF-like #09	Ca2+ binding	Small rearrangement	Fr.	Stop at 846	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 695 AUS02WES F0009 I01 NA Heterozygous AUSTRALIA NA 114
p.Pro825Ser	c.2473C>T	20	825	cb EGF-like #09	Ca2+ binding	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1734 UKD07WIL F0018 I0001 NA Heterozygous U.K. NA 157 2993 UKD05LON F0198 I0001 NA Heterozygous U.K. NA 238
p.Ser827Pro	c.2479T>C	20	827	cb EGF-like #09	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2605 FRA01BOU F0863 I0899 Female Heterozygous FRANCE NA 207
p.Phe828Cys	c.2483T>G	20	828	cb EGF-like #09	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1141 UKD05LON F0104 I01 NA Heterozygous U.K. NA 96
p.Cys830Ser	c.2488T>A	20	830	cb EGF-like #09	Disulfide bonds 816-830 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1327 FRA01BOU F0343 I0381 Male Heterozygous FRANCE NA 145
p.Cys830Tyr	c.2489G>A	20	830	cb EGF-like #09	Disulfide bonds 816-830 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3217 CAN01TOR F0007 I0001 NA Heterozygous CANADA NA 264
p.Cys832Tyr	c.2495G>A	20	832	cb EGF-like #09	Disulfide bonds 832-845 (C5)	Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 231 USA03STA F0019 I20 NA Heterozygous U.S.A Type II 54 912 ITA02PAV F0026 I01 Male Heterozygous ITALIA NA 125 1372 UKD05LON F0136 I01 NA Heterozygous U.K. NA 96 1995 TAI01TAI F0014 I0001 NA Heterozygous TAIWAN NA 183
p.Cys832Ser	c.2495G>C	20	832	cb EGF-like #09	Disulfide bonds 832-845 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2360 FRA01BOU F0617 I0654 Female Heterozygous FRANCE NA 207
p.Cys832Phe	c.2495G>T	20	832	cb EGF-like #09	Disulfide bonds 832-845 (C5)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1996 TAI01TAI F0015 I0001 NA Heterozygous TAIWAN NA 183
p.Glu835_Leu838del	c.2502_2513del	20	834	cb EGF-like #09		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 719 BEL01GHE F0106 I01 NA Heterozygous BELGIUM NA 153
p.Ser836Ile	c.2507G>T	20	836	cb EGF-like #09	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2535 FRA01BOU F0791 I0828 Female Heterozygous FRANCE NA 207
p.Leu838Ser	c.2513T>C	20	838	cb EGF-like #09		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1634 FRA01BOU F0424 I0461 Male Heterozygous FRANCE NA 145
p.Cys845Tyr	c.2534G>A	20	845	cb EGF-like #09	Disulfide bonds 832-845 (C6)	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2191 FRA04DIJ F0002 I0001 Male Heterozygous FRANCE NA 256 2532 FRA01BOU F0788 I0825 Male Heterozygous FRANCE NA 207
p.Cys845Phe	c.2534G>T	20	845	cb EGF-like #09	Disulfide bonds 832-845 (C6)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3235 AUS01VIE F0003 I0001 Female Heterozygous AUSTRIA NA 271