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

    Request ID: 5-6

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys111Arg	c.331T>C	3	111	EGF-like #01	Disulfide bonds 102-111 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 111 UKD01EDI F0005 I01 Female Heterozygous U.K. NA 41
p.Arg364X	c.1090C>T	9	364	TGFBP#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 484 FRA01BOU F0169 I0208 Male Heterozygous FRANCE NA 64
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
	c.IVS11+5G>A (c.1468+5G>A)	11-12	490	cb EGF-like #03	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2998 NET01AMS F0008 I0001 Female Heterozygous NETHERLAND NA 212
p.Arg545Cys	c.1633C>T	13	545	cb EGF-like #04		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 112 UKD01EDI F0006 I01 Female Heterozygous U.K. NA 41
p.Asp765Asn	c.2293G>A	18-19	765	cb EGF-like #08	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3088 UKD09SAL F0009 I0001 NA Heterozygous U.K. NA 242
p.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	6
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 3073 NET04NIJ F0004 I0007 Female Heterozygous PAKISTAN NA 240 3075 NET04NIJ F0004 I0009 Male Heterozygous PAKISTAN NA 240 3077 NET04NIJ F0004 I0011 Male Heterozygous PAKISTAN NA 240
	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.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.Cys1117Tyr	c.3350G>A	27	1117	cb EGF-like #13	Disulfide bonds 1117-1129 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 28 USA03STA F0002 I783 Female Heterozygous U.S.A Type IV d 12
p.Gly1127Ser	c.3379G>A	27	1127	cb EGF-like #13	conserved AA in cbEGF-like	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 361 USA03STA F0063 I01 Female Heterozygous U.S.A NA 78
p.Cys1470Arg	c.4408T>C	35	1470	cb EGF-like #21	Disulfide bonds 1456-1470 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 508 FRA01BOU F0218 I0257 Female Heterozygous FRANCE NA 64
p.Cys1564Ser	c.4691G>C	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2188 USA01BAL F0038 I0001 Female Heterozygous U.S.A. NA 206
p.Arg1692_Tyr1699del	c.5074_5097del	41	1692	TGFBP#05		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 596 FRA02PAR F0001 I0001 Male Heterozygous FRANCE NA 106
p.Cys2137SerfsX24	c.6405_6406dup	52	2136	cb EGF-like #32	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2160	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2141 USA17HER F0001 I0001 Female Heterozygous U.S.A. NA 199
p.Cys2153Tyr	c.6458G>A	52	2153	cb EGF-like #32	Disulfide bonds 2153-2164 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 637 FRA01BOU F0222 I0261 Male Heterozygous FRANCE NA 64
p.Glu2194X	c.6580G>T	53	2194	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2972 SPA01MAD F0001 I0001 Male Heterozygous SPAIN NA 235
p.Cys2258Arg	c.6772T>C	55	2258	cb EGF-like #35	Disulfide bonds 2258-2274 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 120 UKD01EDI F0015 I01 Female Heterozygous U.K. NA 41
p.Cys2577Arg	c.7729T>C	62	2577	cb EGF-like #41	Disulfide bonds 2577-2590 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 173 ITA01FLO F0003 I01 Male Heterozygous ITALIA NA 50
p.Trp2756X	c.8268G>A	65	2756	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16 FIN01HEL F0002 I01 Male Heterozygous FINLAND NA 9