The UMD-FBN1 mutations database
Mutations associated with phenotype: O-Flat cornea (<42 dp) (m)

    Request ID: 5-13

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu74X	c.221T>A	2	74	4-cys motif LTBP-like		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3173 USA19NAS F0001 I0001 Male Heterozygous U.S.A. NA 247
p.Thr101Ala	c.301A>G	3	101	EGF-like #01		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 153 FRA01BOU F0114 I0152 Female Heterozygous FRANCE NA 64
p.Cys168Arg	c.502T>C	5	168	EGF-like#03	Disulfide bonds 168-177 (C5)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1662 CHI05HAN F0002 I0001 Female Heterozygous CHINA NA 154
p.Gln176SerfsX14	c.526delC	5	176	EGF-like#03		Small rearrangement	Fr.	Stop at 189	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 492 FRA01BOU F0147 I0186 Female Heterozygous FRANCE NA 64
p.Gln196X	c.586C>T	6	196	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1124 JAP06HIR F0001 I0001 NA Heterozygous JAPAN NA 119
p.Thr212SerfsX10	c.635_636delCA	6	212	Hybrid module#01		Small rearrangement	Fr.	Stop at 221	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 354 FRA01BOU F0142 I0181 Female Heterozygous FRANCE NA 64
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.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.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.Gly479ArgfsX12	c.1434dup	11	479	EGF-like #04	conserved AA in EGF-like	Small rearrangement	Fr.	Stop at 490	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 656 FRA01BOU F0241 I0280 Male Heterozygous FRANCE NA 64
	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 2999 NET01AMS F0008 I0002 Male Heterozygous NETHERLAND NA 212
p.Thr524AsnfsX9	c.1570dup	12	524	cb EGF-like #03		Small rearrangement	Fr.	Stop at 532	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 638 FRA01BOU F0172 I0211 Female Heterozygous FRANCE NA 64
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 1665 CHI05HAN F0005 I0001 Male Heterozygous CHINA NA 154
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 1666 CHI05HAN F0006 I0001 Female Heterozygous CHINA NA 154
p.Tyr635Cys	c.1904A>G	15	635	cb EGF-like #06	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 644 FRA01BOU F0211 I0250 Male Heterozygous FRANCE NA 64
p.Asp654Asn	c.1960G>A	15-16	654	TGFBP#02	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 451 GER01BER F0028 I26 Female Heterozygous GERMANY NA 95
p.Ala686Asp	c.2057C>A	16	686	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 626 FRA01BOU F0170 I0209 Male Heterozygous FRANCE NA 64
p.Cys750Ser	c.2248T>A	18	750	cb EGF-like #07	Disulfide bonds 750-763 (C5)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 658 FRA01BOU F0214 I0253 Female Heterozygous FRANCE NA 64
p.Gln855X	c.2563C>T	21	855	Hybrid motif #02		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 633 FRA01BOU F0259 I0298 Female Heterozygous FRANCE NA 64
p.Cys908Arg	c.2722T>C	22	908	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 665 FRA01BOU F0264 I0303 Male Heterozygous FRANCE NA 145
p.Gly989ValfsX10	c.2966delG	24	989	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Fr.	Stop at 998	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 634 FRA01BOU F0229 I0268 Male Heterozygous FRANCE NA 64
p.Ile1048Thr	c.3143T>C	25	1048	cb EGF-like #11	Ca2+ binding	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 506 FRA01BOU F0242 I0281 Female Heterozygous FRANCE NA 64
p.Leu1080SerfsX8	c.3238delC	26	1080	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 1087	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 500 FRA01BOU F0159 I0198 Female Heterozygous FRANCE NA 64
p.Cys1138Arg	c.3412T>C	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 503 FRA01BOU F0160 I0199 Female Heterozygous FRANCE NA 64
p.Tyr1178Cys	c.3533A>G	28	1178	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 632 FRA01BOU F0258 I0297 Male Heterozygous FRANCE NA 64
p.Asn1332ThrfsX82	c.3993_3994dup	32	1332	cb EGF-like #18		Small rearrangement	Fr.	Stop at 1413	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 647 FRA01BOU F0262 I0301 Male Heterozygous FRANCE NA 64
p.Glu1366X	c.4096G>T	33	1366	cb EGF-like #19	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1125 JAP06HIR F0002 I0001 NA Heterozygous JAPAN NA 119
p.Pro1453ArgfsX22	c.4356delT	35	1452	cb EGF-like #21		Small rearrangement	Fr.	Stop at 1474	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 495 FRA01BOU F0152 I0191 Female Heterozygous FRANCE NA 64
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 1667 CHI05HAN F0007 I0001 Female Heterozygous CHINA NA 154
p.Cys1663Arg	c.4987T>C	40	1663	cb EGF-like #24	Disulfide bonds 1652-1663 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 666 FRA01BOU F0173 I0212 Male Heterozygous FRANCE NA 145
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	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 481 FRA01BOU F0168 I0207 Male Heterozygous FRANCE NA 64 518 BEL01GHE F0071 I1804 Male Heterozygous BELGIUM NA 89
p.Cys1860Phe	c.5579G>T	45	1860	cb EGF-like #27	Disulfide bonds 1860-1874 (C2)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 715 FRA01BOU F0182 I0221 Female Heterozygous FRANCE NA 145
p.Cys2038Phe	c.6113G>T	49	2038	cb EGF-like #31	Disulfide bonds 2024-2038 (C4)	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 488 FRA01BOU F0164 I0203 Female Heterozygous FRANCE NA 64
p.Cys2151Arg	c.6451T>C	52	2151	cb EGF-like #32	Disulfide bonds 2137-2151 (C4)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 636 FRA01BOU F0191 I0230 Male Heterozygous FRANCE NA 64
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.Tyr2272Cys	c.6815A>G	55	2272	cb EGF-like #35	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 643 FRA01BOU F0228 I0267 Male Heterozygous FRANCE NA 64
p.Cys2339Tyr	c.7016G>A	57	2339	TGFBP #07	C in disulfide bonds 2339-2363	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 473 GER01BER F0053 I21 Male Heterozygous GERMANY NA 95
p.Gly2514X	c.7540G>T	60	2514	cb EGF-like #39	conserved AA in cbEGF-like	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 624 FRA01BOU F0203 I0242 Male Heterozygous FRANCE NA 64
p.Gly2677TrpfsX28	c.8027dup	63	2676	cb EGF-like #43		Small rearrangement	Fr.	Stop at 2704	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 608 GER03HAN F0020 I14 Female Heterozygous GERMANY NA 107
p.Gln2867X	c.8599C>T	65	2867	FibuCTDIII-like motif		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 498 FRA01BOU F0176 I0215 Male Heterozygous FRANCE NA 64