The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Minor cardiovascular involvement

    Request ID: 1-15

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys43ArgfsX67	c.123_127dup	1	43	NH2 unique region	N-Term Furine/Pace site	Small rearrangement	Fr.	Stop at 109	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1182 UKD05LON F0127 I01 NA Heterozygous U.K. NA 96
	c.IVS2+1G>A (c.247+1G>A)	2-3	83	EGF-like #01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 888 UKD05LON F0096 I01 NA Heterozygous U.K. NA 96
p.Cys160Arg	c.478T>C	5	160	EGF-like#03	Disulfide bonds 150-160 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 817 UKD05LON F0025 I01 NA Heterozygous U.K. NA 96
p.Arg215X	c.643C>T	6	215	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 821 UKD05LON F0029 I01 NA Heterozygous U.K. NA 96
p.Asn762ArgfsX4	c.2285insG	18	762	cb EGF-like #07		Small rearrangement	Fr.	Stop at 765	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1148 UKD05LON F0111 I01 NA Heterozygous U.K. NA 96
p.Cys832Tyr	c.2495G>A	20	832	cb EGF-like #09	Disulfide bonds 832-845 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1372 UKD05LON F0136 I01 NA Heterozygous U.K. NA 96
p.Asp1028Gly	c.3083A>G	24-25	1028	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1376 UKD05LON F0139 I01 NA Heterozygous U.K. NA 96
p.His1130IlefsX32	c.3388delC	27	1130	cb EGF-like #13	Ca2+ binding	Small rearrangement	Fr.	Stop at 1161	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 769 BEL01GHE F0094 I01 NA Heterozygous BELGIUM NA 121 770 BEL01GHE F0095 I01 NA Heterozygous BELGIUM NA 121
p.Cys1138Tyr	c.3413G>A	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1381 UKD05LON F0144 I01 NA Heterozygous U.K. NA 96
p.Thr1321Thr	c.3963A>G	31	1321	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1716 UKD05LON F0197 I0001 NA Heterozygous U.K. NA 96
	c.IVS31-1G>T (c.3965-1G>T)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1150 UKD05LON F0113 I01 NA Heterozygous U.K. NA 96
p.Gln1419_Cys1420del	c.4255_4260del	34	1419	cb EGF-like #20		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1388 UKD05LON F0151 I01 NA Heterozygous U.K. NA 96
p.Cys1622Arg	c.4864T>C	39	1622	cb EGF-like #23	Disulfide bonds 1610-1622 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 847 UKD05LON F0055 I01 NA Heterozygous U.K. NA 96
p.Arg1644X	c.4930C>T	39	1644	cb EGF-like #23		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 373 UKD05LON F0010 I13 NA Heterozygous U.K. NA 96
p.Cys1777Phe	c.5330G>T	43	1777	cb EGF-like #25	Disulfide bonds 1777-1791 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1396 UKD05LON F0159 I01 NA Heterozygous U.K. NA 96
p.Gly1796X	c.5386G>T	43	1796	cb EGF-like #25	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 853 UKD05LON F0061 I01 NA Heterozygous U.K. NA 96
p.Gly1879Asp	c.5636G>A	45	1879	cb EGF-like #27	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 376 UKD05LON F0013 I32 NA Heterozygous U.K. NA 96
p.Asn1907Ser	c.5720A>G	46	1907	cb EGF-like #28	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 859 UKD05LON F0067 I01 NA Heterozygous U.K. NA 96
p.Asp1930His	c.5788G>C	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1400 UKD05LON F0163 I01 NA Heterozygous U.K. NA 96
	c.IVS48+1G>C (c.6037+1G>C)	48-49	2013	cb EGF-like #31	Ca2+ binding	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 785 BEL01GHE F0102 I01 NA Heterozygous BELGIUM NA 121
p.Gly2195Arg	c.6583G>A	53	2195	cb EGF-like #33	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1411 UKD05LON F0174 I01 NA Heterozygous U.K. NA 96
p.Val2234Met	c.6700G>A	54	2234	cb EGF-like #34		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 870 UKD05LON F0078 I01 NA Heterozygous U.K. NA 96
p.Cys2289Trp	c.6867T>G	55	2289	cb EGF-like #35	Disulfide bonds 2276-2289 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1415 UKD05LON F0178 I01 NA Heterozygous U.K. NA 96
p.Thr2462ArgfsX25	c.7385_7386delCA	59	2462	cb EGF-like #38	Ca2+ binding	Small rearrangement	Fr.	Stop at 2486	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 879 UKD05LON F0087 I01 NA Heterozygous U.K. NA 96
p.Cys2489Arg	c.7465T>C	60	2489	cb EGF-like #39	Disulfide bonds 2489-2500 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1419 UKD05LON F0182 I01 NA Heterozygous U.K. NA 96
p.Gly2618Arg	c.7852G>A	63	2618	cb EGF-like #42		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 886 UKD05LON F0094 I01 NA Heterozygous U.K. NA 96