The UMD-FBN1 mutations database
Mutations associated with phenotype: Se-Hearing loss

    Request ID: 7-1

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Pro1424Ala	c.4270C>G	34	1424	cb EGF-like #20	Ca2+ binding	Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2183 FRA04DIJ F0003 I0001 Male Heterozygous FRANCE NA 256
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
	c.IVS64+1G>T (c.8226+1G>T)	64	2742	FibuCTDIII-like motif		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3359 USA22DAL F0002 I0001 Female Heterozygous U.S.A. NA 283