Fig 2: Figure 1 shows the relative codon adaptiveness of the longest PILRA reference isoform and the mutant gene averaged over a nine-codon window in caudate neuronal cells. The mutant gene (rs2405442:T>C) has a higher codon adaptiveness at the beginning of the gene sequence compared to the wildtype gene.

Fig 3: Relative codon adaptiveness for PILRA in caudate neuronal cells. Figure 1 shows the relative codon adaptiveness of the longest PILRA reference isoform and the mutant gene averaged over a nine-codon window in caudate neuronal cells. The mutant gene (rs2405442:T>C) has a higher codon adaptiveness at the beginning of the gene sequence compared to the wildtype gene.

Fig 4: rs2405442:T>C’s effects on mRNA and protein levels in CHO cells harboring the synonymous variant compared to wildtype cells without the variant. Three independent sets of eight technical replicates were used to assess differences between the wildtype and the mutant using both qPCR and ELISA. (A) shows that PILRA mRNA levels are significantly lower in the mutant than the wildtype (p = 1.9184 × 10−13). Since high Ct values show lower expression, we converted the raw Ct values to the relative expression by using the formula 2−Ct, where Ct is the normalized expression of CPILRA−CGAPDH. While it is unclear why the wildtype exhibited larger variance than the mutant, all qPCR measurements from the mutant were lower than all measurements from the wildtype, indicating that the mutant decreased mRNA levels compared to the wildtype. Two outliers with higher expression from the wildtype were removed, but did not affect the conclusions; (B) shows that PILRA protein levels are also significantly lower in the mutant than the wildtype (p = 0.01296).