Fig. 1: Bioinformatics analysis of Kv11.1 PAS domain (PASD) variants. | Genetics in Medicine

Fig. 1: Bioinformatics analysis of Kv11.1 PAS domain (PASD) variants.

From: A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants

Fig. 1

(a) ConSurf calculated scores color-coded from orange (highly variable) to blue (highly conserved) for each residue. (b) ASAView calculated relative solvent accessibility percentages for variants grouped by trafficking phenotype. Circles outlined in black indicate the average. (c) FoldX calculated stabilities color-coded by trafficking phenotype for each variant. Bars represent mean ± SD from three different structures (PDB: 1BYW, 4HQA, and 4HP9). Inset shows values grouped by trafficking phenotype. Circles outlined in black indicate the average. Reported changes in melting temperature (Tm) are shown below for comparison.14,15

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