The FGFR2K659E mutation is equivalent to FGFR3K650E, which is also found some cancers and causes the neonatal lethality syndrome Thanatophoric Dysplasia Type II (3).
These mutations are equivalent to R420H and F448L in human Kv3.3 (Waters et al., 2006).
The rates for synonymous and non-synonymous mutations were equivalent at 2.5 × 10-6 and 3.2 × 10-6 nucleotide substitutions per site per day respectively.
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.
If, as expected, the mutation rate was equivalent at all positions within the MVP sequence positions, then the docking of one MVP monomer for another would quickly deteriorate so there must be selective pressure to maintain the residues important for docking even if the vault structure was ancestrally rather simpler.
Thus, the proportion of offspring that carried new ry mutations in each experiment was equivalent to the frequency of mutation at the target.
Lys117Asn and Ala146Thr had phenotypes similar to the hotspot mutations, whereas Leu19Phe had an attenuated phenotype and the Arg164Gln mutation was phenotypically equivalent to wt K-Ras.
In contrast, the codon 164 mutation was phenotypically equivalent to wt K-ras with no evidence of foci formation and the codon 19 mutation generated low but consistent numbers of isolated foci.
The results showed that the ability to detect base mutations with sufficient power was equivalent regardless of whether frozen or FFPE tissue-derived genomic DNA was used for WES.
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).
