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

    Request ID: 5-19

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.Tyr458Ser	c.1373A>C	11	458	EGF-like #04		Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 182 FRA01BOU F0107 I0145 Male Heterozygous FRANCE NA 64
p.Ile531_Asp2055del	c.1589_6163del	12-13	530	cb EGF-like #04	Ca2+ binding	Large rearrangement Deletion from exon 13 to 49	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1881 UKD08SOU F0001 I0001 Female Heterozygous U.K. NA 168
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 135 BEL01GHE F0005 I01 Male 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.Gly1013Arg	c.3037G>A	24	1013	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 331 GER01BER F0003 I15 Female Heterozygous GERMANY NA 80
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 718 UKD05LON F0024 I01 Male Heterozygous U.K. NA 118
p.Asp1072Gly	c.3215A>G	26	1072	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 64 USA05HOU F0009 I182 NA Heterozygous U.S.A NA 26
p.Glu1073Lys	c.3217G>A	26	1073	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1275 AUS02WES F0064 I01 Male Heterozygous AUSTRALIA NA 142
p.Cys1081Gly	c.3241T>G	26	1081	cb EGF-like #12	Disulfide bonds 1081-1095 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 163 FRA01BOU F0113 I0151 Male Heterozygous FRANCE NA 64
p.Cys1086Arg	c.3256T>C	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1882 USA13PRO F0001 I0001 Female Heterozygous U.S.A. NA 169
p.Cys1086Tyr	c.3257G>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1826 TUR01ANK F0001 I0001 Male Heterozygous TURKEY NA 159
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 106 AUS01NAD F0007 I01 NA Heterozygous AUSTRALIA NA 114
p.Glu1200Gly	c.3599A>G	29	1200	cb EGF-like #15	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 125 FIN01HEL F0016 I01 Female Heterozygous FINLAND NA 43
p.Cys1236Arg	c.3706T>C	29	1236	cb EGF-like #15	Disulfide bonds 1223-1236 (C6)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 983 NET01AMS F0007 I01 Male Heterozygous NETHERLAND NA 126
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 752 CAN01TOR F0003 I01 Male Heterozygous CANADA NA 123
p.Cys1307Tyr	c.3920G>A	31	1307	cb EGF-like #17	Disulfide bonds 1307-1320 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 631 FRA01BOU F0171 I0210 Male Heterozygous FRANCE NA 64
	c.IVS31+1G>A (c.3964+1G>A)	31-32	1322	cb EGF-like #18	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 36 USA02OMA F0002 I896 NA Heterozygous U.S.A Type IV 17
p.Gly1394_Thr1396del	c.4179_4187del	33	1393	cb EGF-like #19		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 308 AUS01NAD F0018 I79 Male Heterozygous AUSTRALIA NA 114
p.Cys1429Ser	c.4285T>A	34	1429	cb EGF-like #20	Disulfide bonds 1415-1429 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 130 BEL01GHE F0009 I01 Female Heterozygous BELGIUM NA 89
p.Arg1530Cys	c.4588C>T	37	1530	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 305 AUS01NAD F0019 I42 Male Heterozygous AUSTRALIA NA 114
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.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.Cys1770Phe	c.5309G>T	43	1770	cb EGF-like #25	Disulfide bonds 1770-1782 (C1)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 310 AUS01NAD F0021 I25 Female Heterozygous AUSTRALIA NA 114
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.Ile1809_Asp1930del	c.5423_5788del	43-44	1808	cb EGF-like #26	Ca2+ binding	Large rearrangement Deletion from exon 44 to 46	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 558 USA03STA F0065 I890 Female Heterozygous U.S.A NA 91
p.Glu2193X	c.6577G>T	53	2193	cb EGF-like #33		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 312 AUS01NAD F0023 I43 Female Heterozygous AUSTRALIA NA 114
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
	c.IVS63-2A>G (c.8052-2A>G)	63-64	2684	cb EGF-like #43		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 60 USA05HOU F0005 I01 NA Heterozygous U.S.A NA 24
p.Ile2741Thr	c.8222T>C	64	2741	FibuCTDIII-like motif		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3358 USA22DAL F0002 I0001 Female Heterozygous U.S.A. NA 283
	c.IVS64+1G>T (c.8226+1G>T)	64	2742	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3359 USA22DAL F0002 I0001 Female Heterozygous U.S.A. NA 283