These mutations are equivalent to R420H and F448L in human Kv3.3 (Waters et al., 2006).
The FGFR2K659E mutation is equivalent to FGFR3K650E, which is also found some cancers and causes the neonatal lethality syndrome Thanatophoric Dysplasia Type II (3).
When compared to patients from Southeast Asian region, the frequency of NPM1 mutation was equivalent to our study (26%); however, the frequency of FLT3/ITD mutations was higher in Southeast Asian region as compared to our study (33% versus 23%) [ 16]. Adult patients usually have a higher frequency of NPM1 mutation than children.
Mutations that were equivalent to N69C (i.e. N36C and H102C) were next generated.
The mutant frequency and mutation rate of PAHM4 were equivalent to the PAO1 Δ mutS strain, and complementation of PAHM4 with mutS from PAO1 reduced the mutant frequency and mutation rate by nearly 2 logs (Table 1), leaving a residual 10-fold increase in mutation rate.
In addition, we generated a Nek8-G442V mutation, which was equivalent to the G448V mutation identified in jck mice, an A197P mutation, which is an amino acid change reported as a potential driver mutation in pancreatic cancer (32), and a T162A mutation to block phosphorylation at this site within the activation loop.
The F363L mutation, which is equivalent to the infant-onset mutation F448L in human Kv3.3, replaces a phenylalanine at the cytoplasmic end of the S5 transmembrane segment with leucine (Mock et al., 2010; Waters et al., 2006).
This assay allowed us to detect this alteration in samples containing 2% of cells harboring this mutation, which is equivalent to 1% mutated DNA, assuming heterozygosity for the allele.
Mutations are stochastic, so the rates at which any given DNA site is created or ablated by mutation should be equivalent.
Hence, an "effective locus allele" is not a specific mutation, but is equivalent to a long haplotype block passed on from parent to offspring.
