The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Tricuspid valve prolapse

    Request ID: 1-24

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1_538del	1	1	Signal peptide		Large rearrangement Deletion from exon 1 to 5	Fr.	Stop at 10	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2940 USA18SLC F0001 I0001 Male Heterozygous U.S.A. NA 227
p.Cys166Ser	c.496T>A	5	166	EGF-like#03	Disulfide bonds 154-166 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 307 AUS01NAD F0011 I29 Female Heterozygous AUSTRALIA NA 114
p.Gly214Ser	c.640G>A	6	214	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 155 FRA01BOU F0124 I0162 Male Heterozygous FRANCE NA 64
p.Tyr458Ser	c.1373A>C	11	458	EGF-like #04		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 182 FRA01BOU F0107 I0145 Male Heterozygous FRANCE NA 64
p.Cys474_Asp490delinsTyr	c.1421_1468del	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 128 FIN01HEL F0020 I01 Male Heterozygous FINLAND NA 68
p.Arg565X	c.1693C>T	13	565	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 516 USA01BAL F0033 I28 Female Heterozygous U.S.A NA 81
p.Cys805X	c.2412_2413delAT	19	804	cb EGF-like #08		Small rearrangement	Fr.	Stop at 805	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 422 ITA01FLO F0004 I07 Female Heterozygous ITALIA NA 93
p.Gly1013Arg	c.3037G>C	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 104 AUS01NAD F0025 I01 Male Heterozygous AUSTRALIA NA 77
p.Lys1023Asn	c.3069G>C	24	1023			Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18 FIN01HEL F0004 I01 Male Heterozygous FINLAND NA 10
p.Cys1032Tyr	c.3095G>A	25	1032	cb EGF-like #11	Disulfide bonds 1032-1044 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 291 NET02UTR F0001 I01 Female Heterozygous NETHERLAND NA 65
p.Cys1055Gly	c.3163T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 89 AUS01NAD F0003 I05 Female Heterozygous AUSTRALIA NA 36
p.Cys1055Trp	c.3165T>G	25	1055	cb EGF-like #11	Disulfide bonds 1055-1068 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 399 BEL01GHE F0034 I2115 Male Heterozygous BELGIUM NA 115
p.Ile1071Ser	c.3212T>G	26	1071	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 561 USA02OMA F0007 I01 Female Heterozygous U.S.A NA 38
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1275 AUS02WES F0064 I01 Male Heterozygous AUSTRALIA NA 142
p.Glu1073Asp	c.3219A>T	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 352 USA02OMA F0007 I01 Female Heterozygous U.S.A NA 38
p.Cys1086Tyr	c.3257G>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1826 TUR01ANK F0001 I0001 Male Heterozygous TURKEY NA 159
p.Arg1137Pro	c.3410G>C	27	1137	cb EGF-like #13	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01BAL F0002 I01 Female Heterozygous U.S.A NA 1
p.Tyr1186Cys	c.3557A>G	28	1186	cb EGF-like #14	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 177 FRA01BOU F0105 I0143 Male Heterozygous FRANCE NA 64
p.Cys1201Tyr	c.3602G>A	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1889 TUR02ANK F0001 I0001 Male Heterozygous TURKEY NA 171
p.Ser1202_Cys1223del	c.3603_3668del	29	1201	cb EGF-like #15	Disulfide bonds 1201-1212 (C1)	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 292 FIN01HEL F0021 I01 NA Heterozygous FINLAND NA 61
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 752 CAN01TOR F0003 I01 Male Heterozygous CANADA NA 123 2846 CAN01TOR F0005 I0001 Male Heterozygous HUNGARY NA 214
	c.IVS30-1G>T (c.3839-1G>T)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 91 USA03STA F0006 I1121 NA Heterozygous U.S.A Type IV 28
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 17 197 GER01BER F0002 I0775 Male Heterozygous GERMANY NA 52
	c.IVS31-2A>T (c.3965-2A>T)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 35 USA02OMA F0003 I497 Female Heterozygous U.S.A NA 17
	c.IVS33+2T>C (c.4210+2T>C)	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 551 USA04NOR F0015 I3477 Male Heterozygous U.S.A NA 102
p.Cys1420Phe	c.4259G>T	34	1420	cb EGF-like #20	Disulfide bonds 1408-1420 (C3)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 487 FRA01BOU F0163 I0202 Female Heterozygous FRANCE NA 64
	c.IVS35-32del20a (c.4460-32del20a)	35-36	1487	cb EGF-like #22	Ca2+ binding	Small rearrangement	Tv	del20a	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3342 CZE01PRA F0001 I0001 Female Heterozygous CZECH NA 280
p.Cys1589Phe	c.4766G>T	38	1589	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 30 USA03STA F0004 I880 Male Heterozygous U.S.A Type V 12
p.Ile1809_Asp1930del	c.5423_5788del	43-44	1808	cb EGF-like #26	Ca2+ binding	Large rearrangement Deletion from exon 44 to 46	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 558 USA03STA F0065 I890 Female Heterozygous U.S.A NA 91
p.Cys2511Arg	c.7531T>C	60	2511	cb EGF-like #39	Disulfide bonds 2511-2522 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 126 FIN01HEL F0011 I01 Female Heterozygous FINLAND NA 10
p.Cys2581Ser	c.7741T>A	62	2581	cb EGF-like #41	Disulfide bonds 2571-2581 (C3)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3002 NET03LEI F0003 I0001 Female Heterozygous NETHERLAND NA 270
p.Arg2726Trp	c.8176C>T	64	2726	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2192 ITA01FLO F0103 I0001 Male Heterozygous ITALIA NA 97