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Although it is often not possible to quantify the functional consequence of a mutation, TF genes offer a unique opportunity in this respect.
The consequence of a mutation in SFTPC depends on its position in the gene [ 22].
This biochemical consequence of a mutation in Per2 was regionally specific, as the deficit was not seen in SCN tissue.
The functional prediction is made based on the translational consequence of a mutation against a reference transcript set, for example, Gencode.
This was not applied when an upstream codon was annotated as a consequence of a mutation in the codon correspondent to the translation initiation codon of the other sequences.
In other words, saeptation will be the consequence of a mutation that will promote increased inbreeding within a group inheriting that mutation, and thus in a reduction of the gene flow between this new group and its immediate ancestral stock.
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Because of information gained from the Human Genome Project, which first sequenced the entire human genome in 2000, the location of SNPs can point scientists to which particular genes might be affected and what the functional consequences of a mutation might be.
However, no existing method incorporates pathway-level information into the assessment of the consequences of a mutation.
Underlying these relationships are the epistatic interactions that occur when the consequences of a mutation to a protein are determined by the genetic background in which it occurs.
Indeed, our data suggest that the consequences of a mutation might involve the domain, position within a domain, existence of functional subdomains, the type of mutation, and other, yet unidentified properties.
In this study, it refers to genetic interaction between genes, meaning that phenotypic consequences of a mutation in one gene may be modified by mutations in other genes (Boone et al. 2007; Phillips 2008).
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