The UMD-FBN1 mutations database
Mutations associated with phenotype: S-Pes planovalgus

    Request ID: 6-30

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys816Ser	c.2447G>C	20	816	cb EGF-like #09	Disulfide bonds 816-830 (C2)	Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 105 AUS01NAD F0006 I01 Male Heterozygous AUSTRALIA NA 114