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

    Request ID: 5-14

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Pro56HisfsX45	c.165_247del	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Large rearrangement Deletion from exon 2 to 2	Fr.	Stop at 100	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 556 BEL01GHE F0016 I2089 Male Heterozygous BELGIUM NA 89
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	6
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3189 CHI15SHI F0001 I0001 Female Heterozygous CHINA NA 250 3190 CHI15SHI F0001 I0002 Male Heterozygous CHINA NA 250 3191 CHI15SHI F0001 I0003 Male Heterozygous CHINA NA 250 3192 CHI15SHI F0001 I0005 Female Heterozygous CHINA NA 250 3193 CHI15SHI F0001 I0006 Male Heterozygous CHINA NA 250 3249 CHI15SHI F0001 I0004 Male Heterozygous CHINA NA 250
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.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.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 2960 CHI08BEI F0004 I0001 Male Heterozygous CHINA NA 232
p.Ser322Cys	c.965C>G	8	322	cb EGF-like #02		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1863 USA11DUR F0001 I0001 Male Homozygous U.S.A. NA 161
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.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.Cys637Tyr	c.1910G>A	15	637	cb EGF-like #06	Disulfide bonds 623-637 (C4)	Small rearrangement	Ts	G->A	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3184 CHI15TIA F0002 I0001 Male Heterozygous CHINA NA 248 3186 CHI15TIA F0002 I0003 Female Heterozygous CHINA NA 248 3187 CHI15TIA F0002 I0004 Male Heterozygous CHINA NA 248
p.Cys790Ser	c.2368T>A	19	790	cb EGF-like #08	Disulfide bonds 776-790 (C4)	Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3067 NET04NIJ F0004 I0001 Male Heterozygous PAKISTAN NA 240
p.Arg954Cys	c.2860C>T	24	954	TGFBP#03	conserved AA in TGFBP	Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1871 CHI10BEI F0001 I0001 Male Heterozygous CHINA NA 166
p.Asp1070Gly	c.3209A>G	25-26	1070	cb EGF-like #12	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 355 FRA01BOU F0189 I0228 Male Heterozygous FRANCE NA 64
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.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.Thr1321Thr	c.3963A>G	31	1321	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 619 UKD05LON F0022 I01 Male Heterozygous U.K. NA 108
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.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.Glu1743_Asp1808del	c.5225_5422del	41-42	1742	TGFBP#05		Large rearrangement Deletion from exon 42 to 43	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 557 USA03STA F0064 I774 Female Heterozygous U.S.A NA 91
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.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.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
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