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The FGFR2K659E mutation is equivalent to FGFR3K650E, which is also found some cancers and causes the neonatal lethality syndrome Thanatophoric Dysplasia Type II (3).
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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.
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.
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.
Hence, an "effective locus allele" is not a specific mutation, but is equivalent to a long haplotype block passed on from parent to offspring.
Underhill et al. constructed a mutation for TLR2 that is equivalent to the P712H mutation of TLR4 in C3H/HeJ mice.
Indeed, the effect of a random mutation affecting the 5' UTR is equivalent to the effect of a synonymous random mutation affecting the ORF.
The authors introduce a mutation in yeast that is equivalent to the cystic fibrosis transmembrane conductance regulator (CFTR -ΔF508 human mutation, that is, deletion of phenylalanine at amino aCFTR -ΔF508thumanTR protein.
A single mutation among 834 bp is equivalent to 0.12% sequence divergence which, when divided by 200 years, gives a mutation rate of 6 × 10-6 per year.
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