The UMD-FBN1 mutations database
Mutations associated with phenotype: O-No implication

    Request ID: 5-29

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr20Cys	c.59A>G	1	20	Signal peptide		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 895 ITA02PAV F0009 I01 Male Heterozygous ITALIA NA 125
	c.IVS1-1G>A (c.165-1G>A)	1-2	55	4-cys motif LTBP-like	4-cysteine motif	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 609 GER03HAN F0021 I01 Female Heterozygous GERMANY NA 107
p.Val449Ile	c.1345G>A	11	449	EGF-like #04	N-Term MMPs site	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 600 GER03HAN F0013 I03 Male Heterozygous GERMANY NA 107
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