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

    Request ID: 5-38

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly214Ser	c.640G>A	6	214	Hybrid module#01		Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2961 CHI08BEI F0004 I0002 Female Heterozygous CHINA NA 232 2966 CHI08BEI F0004 I0007 Male Heterozygous CHINA NA 232
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 614 UKD05LON F0016 I01 Male Heterozygous U.K. NA 108
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.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.Cys587Arg	c.1759T>C	14	587	cb EGF-like #05	Disulfide bonds 576-587 (C3)	Small rearrangement	Ts	T->C	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2955 CHI14CHE F0001 I0003 Female Heterozygous CHINA NA 231 2956 CHI14CHE F0001 I0004 Male Heterozygous CHINA NA 231
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.Cys637Tyr	c.1910G>A	15	637	cb EGF-like #06	Disulfide bonds 623-637 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3185 CHI15TIA F0002 I0002 Male Heterozygous CHINA NA 248
	c.IVS17-1G>T (c.2168-1G>T)	17-18	723	cb EGF-like #07	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1911 CHI09GUA F0001 I0001 Male Heterozygous CHINA NA 179
p.Leu1038Phe	c.3112C>T	25	1038	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3331 GER03HAN F0117 I0001 Male Heterozygous GERMANY NA 275 3332 GER03HAN F0117 I0002 Female Heterozygous GERMANY NA 275
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
	c.IVS27-1G>A (c.3464-1G>A)	27-28	1155	cb EGF-like #14	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 502 FRA01BOU F0126 I0164 Female Heterozygous FRANCE NA 64
p.Ser1235Pro	c.3703T>C	29	1235	cb EGF-like #15		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2937 CHI08BEI F0003 I0001 Female Heterozygous CHINA NA 226
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.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
p.Cys2061Phe	c.6182G>T	50	2061	TGFBP#06	C in disulfide bonds 2061-2083	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1912 CHI09GUA F0002 I0001 Female Heterozygous CHINA NA 179
p.Asp2485Val	c.7454A>T	59-60	2485	cb EGF-like #39	Ca2+ binding	Small rearrangement	Tv	A->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3000 NET03LEI F0002 I0001 Male Homozygous TURKEY NA 270
p.Phe2556LeufsX2	c.7667_7692del	61	2556	cb EGF-like #40	conserved AA in cbEGF-like	Small rearrangement	Fr.	Stop at 2557	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 673 FRA01BOU F0267 I0306 Male Heterozygous FRANCE NA 145
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