An additional 205 genes were placed into other "content variant" classes, which are interpreted as being present in some genotypes while being absent in others.
The γ subunit is thought to be involved in AMP binding, and in the regulation of glycogen content as variants in its CBS domains affect glycogen metabolism in skeletal and cardiac muscle [19], [23], [25], [26], [36].
We further used molecular, bioinformatics, and population-genetics approaches to define duplication contents, structural variants, and haplotypes within the common breakpoint.
Sequence data with genes, exons, coding regions and strand-dependent codons are marked at appropriate zoom levels, and tracks summarizing GC content, relative variant density and results from data analysis are presented.
Interestingly, using ICP-MS, we found that the W114E variant had the highest selenium content of all variants, with ≈90% Se per subunit.
In addition, functionality has been added to display the contents of Variant Call Format (VCF, Danecek et al., 2011) files.
We examined the surrounding sequence content around these variants and found the majority of the variants in this group had a common tri-nucleotide sequence GGT, changing to GGG (Supplementary Fig. S7), a pattern which has been discovered in whole genome methyl-Seq experiments Meacham et al. (2011a, b).
The distribution of the GC content of these variants clearly deviates from the distribution that one would expect for randomly located variants in the exome.
An increase in the relative content of heterozygous variants was observed in the datasets of both strains after subtraction of the common variants.
