Identification of a novel transthyretin variant (Val30----Leu) associated with familial amyloidotic polyneuropathy

FEBS Lett. 1992 Jul 20;306(2-3):206-8. doi: 10.1016/0014-5793(92)81001-3.


A novel variant transthyretin which contains a leucine-for-valine substitution at position 30 was isolated and identified in the serum of a patient with familial amyloidotic polyneuropathy (FAP). The amino acid substitution was proven to result from a guanine-to-cytosine change at the first base of codon 30 located in exon 2 in the mutated transthyretin gene by restriction fragment length analysis on the amplified transthyretin gene using Cfr13 I. The study indicates that the point mutation of the transthyretin gene is a cause of the disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amyloidosis / blood*
  • Amyloidosis / genetics
  • Base Sequence
  • Chromatography, High Pressure Liquid
  • DNA
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Nervous System Diseases / blood*
  • Nervous System Diseases / genetics
  • Prealbumin / chemistry*
  • Prealbumin / genetics


  • Prealbumin
  • DNA