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

    Request ID: 5-17

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.Arg215X	c.643C>T	6	215	Hybrid module#01		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 294 JAP03OSA F0001 I0001 Male Heterozygous JAPAN NA 55
p.Ile858HisfsX2	c.2570dup	21	857	Hybrid motif #02		Small rearrangement	Fr.	Stop at 859	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 297 JAP03OSA F0003 I0001 Male Heterozygous JAPAN NA 55
p.Cys1652Tyr	c.4955G>A	40	1652	cb EGF-like #24	Disulfide bonds 1652-1663 (C1)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 263 JAP03OSA F0004 I0001 Male Heterozygous JAPAN NA 55
	c.IVS44-2A>G (c.5546-2A>G)	44-45	1849	cb EGF-like #27	Ca2+ binding	Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 550 USA04NOR F0018 I3520 Female Heterozygous U.S.A NA 102
p.Gln2054Pro	c.6161A>C	49	2054	cb EGF-like #31	C-Term MMPs site	Small rearrangement	Tv	A->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 293 JAP03OSA F0005 I0001 Male Heterozygous JAPAN NA 55
p.Asp2127Tyr	c.6379G>T	51-52	2127	cb EGF-like #32	Ca2+ binding	Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 264 JAP03OSA F0006 I0001 Male Heterozygous JAPAN NA 55
p.Arg2220X	c.6658C>T	54	2220	cb EGF-like #34		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 351 JAP03OSA F0007 I0001 Male Heterozygous JAPAN NA 55
p.Cys2221Arg	c.6661T>C	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 265 JAP03OSA F0008 I0001 Male Heterozygous JAPAN NA 55
p.Cys2221Gly	c.6661T>G	54	2221	cb EGF-like #34	Disulfide bonds 2210-2221 (C3)	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 471 GER01BER F0050 I37 Female Heterozygous GERMANY NA 95
p.Gln2598ProfsX10	c.7790dup	62	2597	cb EGF-like #41		Small rearrangement	Fr.	Stop at 2607	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 298 JAP03OSA F0009 I0001 Male Heterozygous JAPAN NA 55