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

    Request ID: 5-4

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.Cys534Arg	c.1600T>C	13	534	cb EGF-like #04	Disulfide bonds 534-546 (C1)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 646 FRA01BOU F0202 I0241 Male Heterozygous FRANCE NA 64
p.Cys853AlafsX19	c.2557delT	21	853	Hybrid motif #02		Small rearrangement	Fr.	Stop at 871	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 628 FRA01BOU F0212 I0251 Male Heterozygous FRANCE NA 64
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.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.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36
p.Cys1182Ser	c.3545G>C	28	1182	cb EGF-like #14	Disulfide bonds 1182-1195 (C5)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 96 BRA01SPA F0003 I01 Male Heterozygous BRAZIL NA 39
p.Cys1208LeufsX22	c.3623delG	29	1208	cb EGF-like #15	Disulfide bonds 1208-1221 (C2)	Small rearrangement	Fr.	Stop at 1229	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 137 BEL01GHE F0003 I01 Male Heterozygous BELGIUM NA 89
	c.IVS34+1G>A (c.4336+1G>A)	34-35	1446	cb EGF-like #21	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 489 FRA01BOU F0109 I0147 Female Heterozygous FRANCE NA 64
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.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.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