The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Foot deformity

    Request ID: 6-14

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.Arg240Cys	c.718C>T	6	240	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 133 BEL01GHE F0007 I01 Female Heterozygous BELGIUM NA 89
p.Cys598Trp	c.1794C>G	14	598	cb EGF-like #05	Disulfide bonds 598-611 (C5)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 134 BEL01GHE F0006 I01 Female Heterozygous BELGIUM NA 89
p.Asp613ThrfsX12	c.1836delA	14	612	cb EGF-like #05	Ca2+ binding	Small rearrangement	Fr.	Stop at 624	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 102 BRA01SPA F0001 I01 Male Heterozygous BRAZIL NA 39
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.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.Asp1070Gly	c.3209A>G	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
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.Cys1182Ser	c.3545G>C	28	1182	cb EGF-like #14	Disulfide bonds 1182-1195 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 96 BRA01SPA F0003 I01 Male Heterozygous BRAZIL NA 39
p.Cys1497Ser	c.4490G>C	36	1497	cb EGF-like #22	Disulfide bonds 1497-1511 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 98 BRA01SPA F0005 I01 Female Heterozygous BRAZIL NA 39
p.Cys1793Trp	c.5379T>G	43	1793	cb EGF-like #25	Disulfide bonds 1793-1806 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 311 AUS01NAD F0022 I32 Female Heterozygous AUSTRALIA NA 114
p.Cys1818Tyr	c.5453G>A	44	1818	cb EGF-like #26	Disulfide bonds 1818-1833 (C2)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 100 BRA01SPA F0006 I01 Female Heterozygous BRAZIL NA 39
p.Glu1823X	c.5467G>T	44	1823	cb EGF-like #26		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 99 BRA01SPA F0007 I01 Male Heterozygous BRAZIL NA 39
p.Gln1854X	c.5560C>T	45	1854	cb EGF-like #27		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 486 FRA01BOU F0128 I0166 Male Heterozygous FRANCE NA 64
p.Gly1910Val	c.5729G>T	46	1910	cb EGF-like #28	Domain-domain packing	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 101 BRA01SPA F0008 I01 Female Heterozygous BRAZIL NA 39
p.Asp1967MetfsX13	c.5898delA	47	1966	cb EGF-like #29		Small rearrangement	Fr.	Stop at 1979	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 138 BEL01GHE F0002 I01 Male Heterozygous BELGIUM NA 89
p.Gly1987Arg	c.5959G>C	48	1987	cb EGF-like #30	conserved AA in cbEGF-like	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 366 UKD05LON F0003 I14 Male Heterozygous U.K. NA 83
p.Phe2642LeufsX40	c.7926delC	63	2642	cb EGF-like #42		Small rearrangement	Fr.	Stop at 2681	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 369 UKD05LON F0006 I26 Female Heterozygous U.K. NA 83
p.Thr2736AsnfsX2	c.8206dup	64	2736	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2737	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3357 USA22DAL F0001 I0001 Female Heterozygous U.S.A. NA 283