Molecular defect in a gamma-2 heavy chain.
The first gamma-2 (gamma2) heavy chain disease protein Gif has pyrroli-dinecarboxylic acid as its amino terminal residue, much of the Fd variable region, and an internal deletion of the heavy chain of about 100 residues corresponding to most of the Fd constant region. Normal sequence resumes with a glutamic acid residue at position 216 in the hinge region. This is the third gamma heavy chain disease protein where normal sequence resumes at the same position after the deletion.
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000097:blood; D001345:Autoradiography; D002845:Chromatography; D004586:Electrophoresis; D006362:Heavy Chain Disease / Q000097:blood*; D006801:Humans; D008970:Molecular Weight; D009194:Myeloma Proteins / Q000032:analysis; D010455:Peptides / Q000097:blood; D005719:gamma-Globulins / Q000032:analysis*
D000596:Amino Acids; D009194:Myeloma Proteins; D010455:Peptides; D005719:gamma-Globulins