Tg^cog

The mutation is a T-to-C transition at coding nucleotide 6848 (c.6848T>C) yielding a leucine to proline change at positionn 2283 (p.L2283P). This falls within the acetylcholinesterase domain and impacts protein conformation. This conformational mutation is temperature sensitive; there is an increase in the level of TGN secreted from mutant thyrocytes at 31 degrees relative to the level secreted at 37 degrees, which is below the threshold of detection by PAGE. A small amount of functional TGN is processed in homozygous mice and serum triiodothyroinine and tetraiodothyroinine are found, albeit at vastly reduced levels. (J:49474)