Genetic T-type calcium channelopathies

Figures

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  Figure 1. Chromosomal location of human Cav3 channels and their membrane topology. (A) Chromosomal location of human CACNA1G, CACNA1H and CACNA1I genes encoding Cav3.1, Cav3.2 and Cav3.3 channels, respectively. (B) Secondary membrane topology of Cav3 depicting the main structural channel gating determinants.

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  Figure 2. Location of CACNA1H mutations within the secondary structure of Cav3.2 along with their associated syndromes. Only mutations that have been functionally characterised are indicated. Protein reference: UniProt O95180. ASD, autism spectrum disorder; CP, chronic pain; GAERS, genetic absence epilepsy rat from Strasburg; IGE, idiopathic generalised epilepsy; NMD, neuromuscular disorder; PA, primary aldosteronism.

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  Figure 3. Location of CACNA1G mutations within the secondary structure of Cav3.1 along with their associated syndromes. Only mutations that have been functionally characterised are indicated. Protein reference: UniProt O43497. CA, cerebellar ataxia; IDCN, deep cerebellar nuclei; GE, idiopathic generalised epilepsy; TRN, thalamic reticular nucleus.

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  Figure 4. Location of CACNA1I mutations within the secondary structure of Cav3.3 along with their associated syndromes. Only mutations that have been functionally characterised are indicated. Protein reference: UniProt Q9P0×4. SCZ, schizophrenia.

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  Figure 5. Prediction of CACNA1H variants on Cav3.2 channel gating. (A) Summary of PolyPhen-2 qualitative prediction and functional experimental score for each Cav3.2 mutations characterised experimentally. (B) Chart representing the proportion of Cav3.2 variants according to Polyphen-2 prediction as a function of their functional score. (C) Plot of the mean functional score as a function of Polyphen-2 prediction.