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The term frame position is used to denote one of the 3 possible positions 0, 1, or 2 by our convention relative to the first base of a codon.
This corresponds to the wobble base of a codon triplet that appears to correlate with enhanced RNA secondary structure at the third base of a codon.
All mutations concerned the third base of a codon, and 5/10 represented a T>C mutation.
Of the 74 intron positions, 25 are in phase zero (between two codons), 27 are in phase one (between the first et second base of a codon) and 22 are in phase two (between the second and third base of a codon).
Maximum Likelihood trees calculated in MrBayes [44] [48] were set to a DNA data type, a 4×4 nucleotide model, Nst of 6 with a Dirichlet prior, no covarion, four states with frequencies of a Dirichlet prior, an invariable gamma (default settings), vertebrate mitochondrial code and were partitioned by codon position (1st, 2nd or 3rd base of a codon).
Respectively, two and four phase 1 (after the first base of a codon) and phase 2 (after the second base of a codon) introns were identified, whereas intron positions 7 and 17 occurred in two phases (0 and 1).
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Constraint analyses also showed that when forcing both the second and first bases of a codon, S values were minimal when the second base was C, particularly when the number of hydrogen bonds established by the first two base pairs was maximal (6 hydrogen bonds; codons CCN and GCN) (Figure 3B).
Intron phase was analyzed manually based on the intron-exon border information: phase 0 designated introns between codons, phase 1 designated introns between the first and second bases of a codon, and phase 2 designated introns between the second and third bases of a codon.
According to the position of the introns, these genes are divided into the following three types: phase 0 (introns between codons), phase 2 (introns between the first and the second bases of a codon) and phase 3 (introns between the second and the third bases of a codon).
In addition to carrying the A908G mutation in codon 303, tumor 52 also exhibited a one-base deletion (of A) in codon 302, resulting in a frame shift that would be expected to produce a null ER-α protein.
Single and dinucleotide sequence composition were calculated by a PERL script (available upon request) and GC3 (GC content in the 3rd base position of a codon) was computed by CodonR [ 47].
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