The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Lens extraction

    Request ID: 5-20

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys476Arg	c.1426T>C	11	476	EGF-like #04	Disulfide bonds 476-488 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2950 USA03STA F0091 I0001 Female Heterozygous U.S.A. NA 228
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.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	11
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3067 NET04NIJ F0004 I0001 Male Heterozygous PAKISTAN NA 240 3068 NET04NIJ F0004 I0002 Male Heterozygous PAKISTAN NA 240 3069 NET04NIJ F0004 I0003 Male Heterozygous PAKISTAN NA 240 3070 NET04NIJ F0004 I0004 Male Heterozygous PAKISTAN NA 240 3071 NET04NIJ F0004 I0005 Male Heterozygous PAKISTAN NA 240 3072 NET04NIJ F0004 I0006 Female Heterozygous PAKISTAN NA 240 3073 NET04NIJ F0004 I0007 Female Heterozygous PAKISTAN NA 240 3074 NET04NIJ F0004 I0008 Female Heterozygous PAKISTAN NA 240 3075 NET04NIJ F0004 I0009 Male Heterozygous PAKISTAN NA 240 3076 NET04NIJ F0004 I0010 Male Heterozygous PAKISTAN NA 240 3077 NET04NIJ F0004 I0011 Male Heterozygous PAKISTAN NA 240
p.Ser1235Pro	c.3703T>C	29	1235	cb EGF-like #15		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2938 CHI08BEI F0003 I0002 Female Heterozygous CHINA NA 226
p.Cys1748Arg	c.5242T>C	42	1748	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3206 USA05HOU F0025 I0001 Male Heterozygous U.S.A. NA 255
p.Arg2282Trp	c.6844C>T	55	2282	cb EGF-like #35		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 132 BEL01GHE F0008 I01 Male Heterozygous BELGIUM NA 89
p.Arg2576Cys	c.7726C>T	62	2576	cb EGF-like #41		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3194 USA20SAN F0001 I0001 Female Homozygous MEXICO NA 252
p.Lys2719AspfsX18	c.8155_8156delAA	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2736	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2850 GER01BER F0072 I0001 Female Heterozygous GERMANY NA 218
p.Lys2719ThrfsX12	c.8155_8174del	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2730	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2859 AUS02WES F0065 I0001 Male Heterozygous IRELAND NA 221
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