The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Congestive heart failure

    Request ID: 1-9

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys890Arg	c.2668T>C	21	890	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 124 FIN01HEL F0017 I01 Male Heterozygous FINLAND NA 45
p.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 USA01BAL F0018 I01 Female Heterozygous U.S.A NA 21 426 CHI01HKO F0001 I0001 Male Heterozygous CHINA NA 94
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 141 UKD03DUN F0002 I01 NA Heterozygous U.K. NA 46
p.Ile1048del	c.3142_3144delATT	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 67 USA05HOU F0007 I251 NA Heterozygous U.S.A NA 26
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 620 USA10NYO F0001 I0001 Female Heterozygous U.S.A NA 105
p.Cys1053Arg	c.3157T>C	25	1053	cb EGF-like #11	Disulfide bonds 1039-1053 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 66 USA05HOU F0008 I92 Female Heterozygous U.S.A NA 26
p.Asp1070His	c.3208G>C	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2132 TAI02TAI F0001 I0001 Female Heterozygous TAIWAN NA 195
	c.IVS25+5G>T (c.3208+5G>T)	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 19 FIN01HEL F0005 I01 Female Heterozygous FINLAND NA 10
p.Cys1074Arg	c.3220T>C	26	1074	cb EGF-like #12	Disulfide bonds 1074-1086 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17 FIN01HEL F0003 I01 NA Heterozygous FINLAND ECM incorporation 10
p.Cys1074Tyr	c.3221G>A	26	1074	cb EGF-like #12	Disulfide bonds 1074-1086 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 611 UKD05LON F0023 I01 NA Heterozygous U.K. NA 109
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 1 USA01BAL F0001 I01 NA Heterozygous U.S.A Type IV 1
	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
p.Leu2486_Asp2607del	c.7456_7821del	60	2486	cb EGF-like #39	Ca2+ binding	Large rearrangement Deletion from exon 60 to 63	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2834 FIN01HEL F0001 I04 Male Heterozygous U.K. NA 209