Table 1

Haplotypes of rs7041 and rs4588 result in structurally different proteins

VariantAlleles at rs7041 and rs4588Protein composition at positions 416 and 420
GC1FT/CAsp/Thr
GC1SG/CGlu/Thr
GC2T/AAsp/Lys
  • The table shows the alleles present at rs7041 and rs4588, respectively (forward strand), and the resulting protein composition at positions 416 and 420, respectively. In this manuscript, where the protein is discussed the nomenclature GC2, GC1S or GC1F is used in plain text, and when it refers to the underlying genetic code (haplotype) italics are used.