Mutation classifications based on the IARC TP53 Function Database were used to estimate the functional impact of TP53 gene variations, rather than their presence per se.
To further confirm the inhibition of hKif15 by hTpx2 and to estimate the functional impact of hTpx2 inhibition on hKif15 functions beside movement, we included hTpx2 in our optical trap experiment.
To further estimate the functional impact of virus-host protein interactions on host cell functions, we next measured topological robustness of the cellular network in a theoretical and simplified model of preferential attack on highly connected, central or bridging proteins.
To estimate the functional impact of alternative splicing, we predicted changes in domain, motif, and miRNA binding site composition of protein sequences for alternatively regulated exons in stage 1-, 4-, and 4+ tumors [ 17].
Although the level of suppression was 20-40% with individual knockdown of these five genes, the positive control FHV dsRNA only reduced protein B2 levels by ~45%, suggesting that this medium throughput assay provided a conservative estimate of the functional impact of cellular glycerophospholipid metabolism gene knockdown.
The need to estimate the potential functional impact of any non-synonymous variant is hence a priority and yet the discrepancy of their pathogenicity predictions (Thomas and Kejariwal 2004; Adzhubei et al. 2013; Capriotti et al. 2013), when different algorithms are used, highlights the need for methods that may weigh the reliability of predictors and yield a single pathogenicity score.
The functional impact of the mutation is not well documented.
The functional impact of this SNP is presently unknown.
