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

    Request ID: 5-35

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 446 GER01BER F0022 I55 Male Heterozygous GERMANY NA 95
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.Arg122Cys	c.364C>T	4	122	EGF-like #02		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 85 UKD03DUN F0001 I01 Male Heterozygous U.K. NA 37 1910 CHI05HAN F0008 I0001 Male Heterozygous CHINA NA 177
p.Cys129Tyr	c.386G>A	4	129	EGF-like #02	Disulfide bonds 119-129 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 40 USA01BAL F0013 I01 NA Heterozygous U.S.A NA 21
p.Gly214Ser	c.640G>A	6	214	Hybrid module#01		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2966 CHI08BEI F0004 I0007 Male Heterozygous CHINA NA 232
p.Arg429X	c.1285C>T	10	429	Proline-rich		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 156 FRA01BOU F0123 I0161 Female Heterozygous FRANCE NA 64
p.Cys474Trp	c.1422T>G	11	474	EGF-like #04	Disulfide bonds 460-474 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 364 UKD05LON F0001 I07 Male Heterozygous U.K. NA 83
p.Cys499Arg	c.1495T>C	12	499	cb EGF-like #03	Disulfide bonds 499-513 (C2)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 268 USA03STA F0050 I09 NA Heterozygous U.S.A Type IV d 57
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.Arg627Cys	c.1879C>T	15	627	cb EGF-like #06		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12 UKD01EDI F0001 I50 Female Heterozygous U.K. NA 7
p.Asp723Asn	c.2167G>A	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2123 ITA01FLO F0096 I0001 Male Heterozygous ITALIA NA 192
p.Cys750Gly	c.2248T>G	18	750	cb EGF-like #07	Disulfide bonds 750-763 (C5)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13 UKD01EDI F0002 I39 Female Heterozygous U.K. NA 7
p.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3070 NET04NIJ F0004 I0004 Male Heterozygous PAKISTAN NA 240 3067 NET04NIJ F0004 I0001 Male Heterozygous PAKISTAN NA 240 3069 NET04NIJ F0004 I0003 Male Heterozygous PAKISTAN NA 240
p.Arg861X	c.2581C>T	21	861	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 582 USA03STA F0070 I993 NA Heterozygous U.S.A Type III 104
p.Val984Ile	c.2950G>A	24	984	TGFBP#03		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 150 GER02MUN F0001 I01 Male Heterozygous GERMANY NA 32
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 269 USA03STA F0053 I14 NA Heterozygous U.S.A Type IV 57
p.Cys1171Trp	c.3513C>G	28	1171	cb EGF-like #14	Disulfide bonds 1159-1171 (C3)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 113 UKD01EDI F0008 I01 Male Heterozygous U.K. NA 41
p.Cys1402Trp	c.4206T>G	33	1402	cb EGF-like #19	Disulfide bonds 1391-1402 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 277 USA03STA F0058 I23 NA Heterozygous U.S.A Type IV 57
p.Asp1404Tyr	c.4210G>T	33-34	1404	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 115 UKD01EDI F0010 I01 Female Heterozygous U.K. NA 41
p.Cys1526Ser	c.4577G>C	36	1526	cb EGF-like #22	Disulfide bonds 1513-1526 (C6)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1906 ITA01FLO F0090 I0001 Female Heterozygous ITALIA NA 175
p.Gly1594Asp	c.4781G>A	38	1594	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2190 USA01BAL F0040 I0001 Male Heterozygous U.S.A. NA 206
p.Cys1610Gly	c.4828T>G	39	1610	cb EGF-like #23	Disulfide bonds 1610-1622 (C1)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 116 UKD01EDI F0011 I01 Female Heterozygous U.K. NA 41
p.Cys1782Arg	c.5344T>C	43	1782	cb EGF-like #25	Disulfide bonds 1770-1782 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 511 FRA01BOU F0143 I0182 Male Heterozygous FRANCE NA 64
p.Cys1824_Gly1829dup	c.5470_5484dup	44	1829	cb EGF-like #26	Domain-domain packing	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64
	c.IVS46+5G>A (c.5788+5G>A)	46-47	1930	cb EGF-like #29	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 606 GER03HAN F0018 I12 Female Heterozygous GERMANY NA 107
p.Cys2017Arg	c.6049T>C	49	2017	cb EGF-like #31	Disulfide bonds 2017-2029 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 250 USA03STA F0084 I06 NA Heterozygous U.S.A Type IV d 54
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.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.Leu2486_Asp2607del	c.7456_7821del	60	2486	cb EGF-like #39	Ca2+ binding	Large rearrangement Deletion from exon 60 to 63	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2832 FIN01HEL F0001 I02 Female Heterozygous U.K. NA 209
p.Cys2617Trp	c.7851C>G	63	2617	cb EGF-like #42	Disulfide bonds 2617-2631 (C2)	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 512 FRA01BOU F0151 I0190 Female Heterozygous FRANCE NA 64