The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Deep set eyes

    Request ID: 2-5

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1068Gly	c.3202T>G	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2845 CAN01TOR F0004 I0001 Female Heterozygous SOMALIA NA 214
p.Pro1068Arg	c.[3203C>G; 3204A>G]	25	1068	cb EGF-like #11	Disulfide bonds 1055-1068 (C6)	Small rearrangement	Ts/Tv	T->C/C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1181 AUS02WES F0062 I01 Female Heterozygous AUSTRALIA NA 139
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.Cys1086Arg	c.3256T>C	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1882 USA13PRO F0001 I0001 Female Heterozygous U.S.A. NA 169
p.Cys1086Tyr	c.3257G>A	26	1086	cb EGF-like #12	Disulfide bonds 1074-1086 (C3)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1826 TUR01ANK F0001 I0001 Male Heterozygous TURKEY NA 159
	c.IVS30+1G>A (c.3838+1G>A)	30-31	1280	cb EGF-like #17	Ca2+ binding	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2846 CAN01TOR F0005 I0001 Male Heterozygous HUNGARY NA 214
p.Leu1364_Asp1404del	c.4088_4210del	32-33	1363	cb EGF-like #19	Ca2+ binding	Large rearrangement Deletion from exon 33 to 33	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1880 UKD08SOU F0002 I0001 Female Heterozygous U.K. NA 168
	c.IVS64+1G>A (c.8226+1G>A)	64	2742	FibuCTDIII-like motif		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3341 BEL01GHE F0260 I0001 Female Heterozygous BELGIUM NA 279