The UMD-FBN1 mutations database
Mutations associated with phenotype: CF-Scaphocephaly

    Request ID: 2-15

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
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
p.Arg2726GlufsX9	c.8174_8181del	64	2725	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2734	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3231 JAP02TOK F0045 I0001 Female Heterozygous JAPAN NA 269