The UMD-FBN1 mutations database
Mutations associated with phenotype: L-Apical blebs

    Request ID: 4-1

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gly1058_Phe1059insCys	c.3175insTGC	25	1059	cb EGF-like #11	conserved AA in cbEGF-like	Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 33 USA05HOU F0001 I01 NA Heterozygous U.S.A Type V d 15
p.Thr2101Lys	c.6302C>A	50	2101	TGFBP#06		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 357 FRA01BOU F0122 I0160 Male Heterozygous FRANCE NA 64