A gamma l heavy-chain disease protein *EST) lacking the entire VH and CHl domains.
A gamma l heavy-chain disease protein (EST) is described which lacks the entire VH and CHl domains and starts with the normal sequence of gamma l H-chains corresponding to the beginning of the hinger region (position 216). Although degradation cannot be excluded with certainty, it is probable that this protein is synthesized as an internally deleted gamma heavy-chain disease protein. Presumably a DNA recombination has occurred resulting in the deletion of the genes of coding for the VH and CHl domains with splicing of the precursor RNA to the sequence coding for the hinge region.
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis*; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D006362:Heavy Chain Disease / Q000235:genetics*; D006801:Humans; D007127:Immunoglobulin Constant Regions / Q000235:genetics; D007128:Immunoglobulin Fragments / Q000032:analysis* / Q000235:genetics; D007143:Immunoglobulin Heavy Chains / Q000032:analysis*; D007135:Immunoglobulin Variable Region / Q000235:genetics; D007142:Immunoglobulin gamma-Chains / Q000032:analysis* / Q000235:genetics; D010442:Peptide Chain Initiation, Translational; D010443:Peptide Chain Termination, Translational
D000596:Amino Acids; D007127:Immunoglobulin Constant Regions; D007128:Immunoglobulin Fragments; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D007142:Immunoglobulin gamma-Chains