The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-Stiff skin

    Request ID: 8-11

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1564Ser	c.4691G>C	37	1564	TGFBP#04	C in disulfide bonds 1564-1589	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2188 USA01BAL F0038 I0001 Female Heterozygous U.S.A. NA 206
p.Trp1570Cys	c.4710G>C	37	1570	TGFBP#04		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2186 USA01BAL F0036 I0002 Male Heterozygous U.S.A. NA 206
p.Trp1570Cys	c.4710G>T	37	1570	TGFBP#04		Small rearrangement	Tv	G->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2187 USA01BAL F0037 I0002 Female Heterozygous U.S.A. NA 206
p.Cys1577Gly	c.4729T>G	37	1577	TGFBP#04	C in disulfide bonds 1563-1577	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2189 USA01BAL F0039 I0001 Male Heterozygous U.S.A. NA 206
p.Gly1594Asp	c.4781G>A	38	1594	TGFBP#04	conserved AA in TGFBP	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2190 USA01BAL F0040 I0001 Male Heterozygous U.S.A. NA 206
p.Cys1748Arg	c.5242T>C	42	1748	TGFBP#05	C in disulfide bonds 1721-1748	Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 3206 USA05HOU F0025 I0001 Male Heterozygous U.S.A. NA 255
p.Lys2719AspfsX18	c.8155_8156delAA	64	2719	FibuCTDIII-like motif		Small rearrangement	Fr.	Stop at 2736	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2850 GER01BER F0072 I0001 Female Heterozygous GERMANY NA 218