Pairwise correlations between CFTR mutation scores and site-specific evolutionary constraint values.

The CFTR mutational score spectrum was regressed against site-specific evolutionary constraint values for seven different evolutionary metrics across a range of increasing evolutionary depths (see Figure 6). For each comparison, the Pearson correlation coefficient (PCC) and associated p-value are shown. Evolutionary methods are ranked according to the best correlations.1DIVERGE produced all 0 posterior probabilities due to insufficient number of sequences.2PolyPhen2 requires only single amino acid sequence to do the scoring and hence the depth-level concept nullifies in this case.

针对递增进化深度范围内的七种不同进化指标对应的位点特异性进化约束值，对囊性纤维化跨膜传导调节因子（CFTR）突变评分谱开展了回归分析（详见图6）。每一组对比均给出了皮尔逊相关系数（Pearson Correlation Coefficient, PCC）及其关联p值。进化分析方法依据其最优相关性能进行排序。1DIVERGE因序列数量不足，输出的后验概率全部为0。2PolyPhen2仅需单氨基酸序列即可完成评分，因此在此场景下进化深度层级的概念不再适用。