Figure 7. A homozygous single nucleotide polymorphism in the NES domain of CITED1 (G864C; Q96H) was detected in 4/20 (20%) WT specimens sequenced.
Three of the 11 (27%) kidney specimens adjacent to a WT showed homozygous wild-type CITED1, 3 of 11 (27%) showed homozygosity for this CITED1 SNP, and the remaining 5 (46%) showed heterozygosity for this SNP. This SNP corresponds to amino acid region 91-100, which represents a CITED1 nuclear export signal (NES) motif.