Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.
Amyloid fibril protein (SKO-III) of 14K daltons associated with familial amyloidotic polyneuropathy of Jewish type was identified by Pras et al. as a prealbumin variant with a single amino acid substitution of a glycine for a threonine at position 49, mainly based on data obtained by automated sequence analyses. Structural re-investigation of SKO-III was performed by comparing tryptic peptide maps of SKO-III and normal human prealbumin. The present analysis reveals that the reported replacement at position 49 is not present in the molecule of SKO-III. SKO-III should be revised to be a prealbumin variant with one amino acid substitution of an isoleucine for a phenylalanine at position 33.
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D000682:Amyloid / Q000235:genetics*; D000686:Amyloidosis / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007585:Jews; D009422:Nervous System Diseases / Q000235:genetics*; D010446:Peptide Fragments / Q000032:analysis; D011228:Prealbumin / Q000235:genetics
D000596:Amino Acids; D000682:Amyloid; D010446:Peptide Fragments; D011228:Prealbumin; C042943:amyloid fibril protein SKO-III