The UMD-FBN1 mutations database
Mutations associated with phenotype: C-Incomplete description

    Request ID: 1-14

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg62Cys	c.184C>T	2	62	4-cys motif LTBP-like		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 447 GER01BER F0023 I46 Male Heterozygous GERMANY NA 95
p.Ser681Tyr	c.2042C>A	16	681	TGFBP#02		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 454 GER01BER F0030 I31 Male Heterozygous GERMANY NA 95
p.Cys683Arg	c.2047T>C	16	683	TGFBP#02	C in disulfide bonds 661-683	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 455 GER01BER F0031 I59 Female Heterozygous GERMANY NA 95
p.Cys908Arg	c.2722T>C	22	908	Hybrid motif #02		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 463 GER01BER F0041 I07 Male Heterozygous GERMANY NA 95
p.Cys1223Tyr	c.3668G>A	29	1223	cb EGF-like #15	Disulfide bonds 1223-1236 (C5)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 39 UKD02OXF F0002 I2521 Female Heterozygous U.K. NA 20
	c.IVS50+3A>G (c.6313+3A>G)	50-51	2105	TGFBP#06		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 477 GER01BER F0048 I79 Male Heterozygous GERMANY NA 95