Genetic Heterogeneity of Familial Amyloid Polyneuropathies of Jewish Type
The Jewish SKO amyloid protein is a prealbumin monomer with two amino acid substitutions. Glycine is substituted for Threonine at position 49 and Isoleucine for Phenylalanine at position 33. The distribution of these components is different in thyroid and spleen suggesting tissue specificifity in amyloid disposition. The SKO variant differs from the prealbumin proteins found in the Portuguese, Japanese and Swedish Familial Amyloid Polyneuropathies. Additional prealbumin variants will be expected when the amyloid proteins of the facial and upper limb amyloid neuropathies as well as the Van Allen kinship can be studied.
KeywordsAmino Acid Substitution Amyloid Deposit Amyloid Fibril Cyanogen Bromide Systemic Amyloidosis
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