The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Enophthalmos (m)

    Request ID: 6-13

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 445 GER01BER F0021 I15 Male Heterozygous GERMANY NA 95
p.Ser115Cys	c.344C>G	3	115	EGF-like #02		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 448 GER01BER F0024 I10 Female Heterozygous GERMANY NA 95
p.Cys596Tyr	c.1787G>A	14	596	cb EGF-like #05	Disulfide bonds 582-596 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 450 GER01BER F0027 I01 Male Heterozygous GERMANY NA 95
p.Cys776Gly	c.2326T>G	19	776	cb EGF-like #08	Disulfide bonds 776-790 (C2)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 461 GER01BER F0038 I37 Male Heterozygous GERMANY NA 95
p.Cys1138Gly	c.3412T>G	27	1138	cb EGF-like #13	Disulfide bonds 1124-1138 (C4)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 651 FRA01BOU F0149 I0188 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.Cys1695Tyr	c.5084G>A	41	1695	TGFBP#05	C in disulfide bonds 1695-1719	Small rearrangement	Ts	G->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3208 USA05HOU F0026 I0002 Female Heterozygous U.S.A. NA 255 3207 USA05HOU F0026 I0001 Female Heterozygous U.S.A. NA 255
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 518 BEL01GHE F0071 I1804 Male Heterozygous BELGIUM NA 89
p.Cys1998Tyr	c.5993G>A	48	1998	cb EGF-like #30	Disulfide bonds 1984-1998 (C4)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 468 GER01BER F0047 I16 Female Heterozygous GERMANY NA 95