Investigating Splicing and Electrophysiological Effects of Mutations

Effects of mutation on splicing were analysed using Alamut Visual v2.7.1 (Interactive Biosoftware, Rouen, France). Current recordings were analysed using Clampfit 10.7, OriginPro 2016 and GraphPad softwares. All data is presented as mean ± SEM. Patch clamp data was analysed using one-way ANOVA, except for open-state inactivation data that was studied using two-way ANOVA, and the peak current density and recovery time-constant data that were analysed using Kruskal-Wallis ANOVA. The gating pore current amplitude data were compared at −90 mV using Kruskal-Wallis ANOVA. Means were compared using Bonferroni post tests for one and two way ANOVA analyses or using Dunn’s multiple comparison tests for Kruskal-Wallis analyses. Significance was established at p < 0.05. Some of the raw data for R222W and wild-type main pore currents and for R222W, R222G and wild-type gating pore currents has been published^{14 (link)}.

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Thor M.G., Vivekanandam V., Sampedro-Castañeda M., Tan S.V., Suetterlin K., Sud R., Durran S., Schorge S., Kullmann D.M., Hanna M.G., Matthews E, & Männikkö R. (2019). Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation. Scientific Reports, 9, 17560.

Publication 2019

Alamut Visual v2.7.1 Clampfit 10.7 OriginPro 2016

Anova Mutation

Corresponding Organization :

Other organizations : University College London, National Hospital for Neurology and Neurosurgery

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Variable analysis

independent variables

Mutation (R222W, R222G, wild-type)

dependent variables

Effects on splicing (analyzed using Alamut Visual v2.7.1)
Peak current density
Recovery time-constant
Gating pore current amplitude at -90 mV
Open-state inactivation

control variables

Patch clamp data analysis methods (one-way ANOVA, two-way ANOVA, Kruskal-Wallis ANOVA)
Statistical tests used for comparisons (Bonferroni post tests, Dunn's multiple comparison tests)

controls

R222W and wild-type main pore currents (published previously)
R222W, R222G and wild-type gating pore currents (published previously)

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