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Fig. 6 | BMC Systems Biology

Fig. 6

From: Network topology of NaV1.7 mutations in sodium channel-related painful disorders

Fig. 6

Summary of ∆B ct values for all nABN and hSNP variants and gain-of-function mutations. a ∆B ct values of all the nABN and hSNP variants (light blue circles) and all the gain-of-function mutations (red circles) analysed in this study. Dashed lines indicates the cut-off value (ΔB ct  ± 0.26) that maximizes sensitivity and specificity. b Intra- and extracellular view of the NaV1.7 and locations of amino acids affected by gain-of-function mutations (red) that are linked with IEM, SFN and PEPD and control group variants (nABN and hSNPs; light blue). Localization of IEM, SFN and PEPD related mutation showed in red (red). *The M1532 residue shares the same position with the SFN-related M1532I mutation which causes in vitro biophysics changes and M1532V variant belongs to the control group.c Receiver operating curve (ROC) of gain-of-function mutations and control mutations (nABN and hSNPs) as a function of ΔB ct . Using a cut-off value of ± 0.26, ΔB ct correctly classified 44 out of 53 controls and 23 of 30 gain-of-function mutations yielding 76% sensitivity and 83% specificity. The area under the curve is 0.81 (95% Confidence Interval = 0.70 to 0.91)

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