The identified sequence variations were functionally annotated using SNPeff v3.5 [ 18].
Bioinformatics analyses revealed that the genes that exhibited increased variation were functionally related to cell death, biomolecule metabolism, and membrane function.
We note that even if the dendritic transcriptome variation is functionally neutral, neutral variation can provide the substrate for rapid adaptive evolution under a different selective regime by presenting segregating variation.
In sensitive cellular and biochemical studies of two murine IL4 allotypes, we found that site 1 epitope variation is functionally neutral with respect to IL4Rα binding affinity and kinetics as well as signalling IL4-dependent cellular responses.
Likewise, the observation that Mterf1 transcript was also reduced in Mpv17−/− muscle, another tissue with significant mtDNA depletion, whereas it was normal in Mpv17−/− brain, which had virtually no or very little mtDNA depletion, suggests that this variation is functionally relevant.
Since relatively few of all sequence or structure variations are necessarily functionally relevant [28], [29], other methods focus on just a few but presumably key residues.
Indeed, we found that the RPMS1 variations defined by 155391A and 155391G are functionally relevant to the stability of RPMS1 protein overexpressed in vitro (Fig. 2).
We are interested in identifying genes that are functionally important in determining natural variation in leaf size, shape, and development.
Thus the oac and oac1b genes are functionally interchangeable despite the high level of sequence variation.
Using the variation of H3K27ac as a novel epigenetic signature, we identified transcriptional regulatory elements that are functionally linked to angiogenesis, participate in rapid VEGFA-stimulated changes in chromatin conformation, and mediate VEGFA-induced transcriptional responses.
