Fig. 2: 3D model of the mutant Cav3.2 channel reveals significant structural changes. | Translational Psychiatry

Fig. 2: 3D model of the mutant Cav3.2 channel reveals significant structural changes.

From: Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

Fig. 2

A Predicted topologies of the wild type (WT) and mutant (MUT) Cav3.2 channels showing the four homologous domains (I–IV) in different colors, each composed of six transmembrane segments (bars S1–S6). The 52-amino acid insertion (yellow) is located between segments S5 and S6 of domain II (between residues Q969 and I970). The hydropathy profiles of the amino acid sequences are shown below the channel topologies. B Structural features of the WT and MUT Cav3.2 channels. Bi Simulations of the proteins viewed from the cytosolic side of the plasma membrane are shown in cartoon representation and colored by domain (DI–DIV). Domain II is colored in magenta and the 52-amino acid insertion is detached in yellow. Bii Structural view of the pore center showing the differences in the pore diameter between WT and MUT Cav3.2 channels.

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