Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant

@article{Namekata1997HumanT,
  title={Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant},
  author={Kazuhiko Namekata and Fumitaka Oyama and Masaki Imagawa and Yasuo Ihara},
  journal={Human Genetics},
  year={1997},
  volume={100},
  pages={457-458}
}
Transferrin (Tf) has many variants, as revealed by isoelectric focusing (IEF). Although these Tf variants have long been thought to arise from the multiple alleles at single Tf locus, amino acid substitution related to the two major variants, Tf C1 and Tf C2, has so far not been reported. We investigated the difference responsible for Tf C1 and Tf C2 variants and identified a single base change in exon 15 of the Tf gene resulting in the phenotypes on IEF. C/T base substitution at codon 570… CONTINUE READING