The UMD-FBN1 mutations database
Mutations associated with phenotype: CNS-Verbal expression pb

    Request ID: 3-5

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Cys1153Tyr	c.3458G>A	27	1153	cb EGF-like #13	Disulfide bonds 1140-1153 (C6)	Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 88 AUS01NAD F0004 I04 Male Heterozygous AUSTRALIA NA 36