ASN 90 is the Variant TTR in an Italian FAP Kinship

A new transthyretin variant which lost an Sph I cleavage site within exon 3 has been characterized. A 260bp sequence containing exon 3 was amplified using the polymerase chain rection, and the variant was found to possess a Bsm I cleavage site not present in normal transthyretin. This led to the conclusion that the histidine at position 90 was replaced by asparagine, and amino acid analysis supported the conclusion.