The UMD-FBN1 mutations database
Mutations associated with phenotype: SI-MCP/IP nodules

    Request ID: 8-6

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