The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Broad nasal bridge

    Request ID: 2-3

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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.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 1883 USA14ALL F0001 I0001 Male Heterozygous U.S.A. NA 170
p.Tyr1101Cys	c.3302A>G	26	1101	cb EGF-like #12	conserved AA in cbEGF-like	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1274 AUS02WES F0063 I01 Male Heterozygous AUSTRALIA NA 142