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Fig. 1 | Molecular Brain

Fig. 1

From: A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity

Fig. 1

Location of ALS-associated Cav3.2 variants. a Schematic representation of the membrane topology of Cav3.2 depicting the position of the ΔI153 (red circle) and P1210L variants (blue circle). b Amino acid sequence alignment of Cav3.2 regions containing the two mutations across several species showing the conservation of the I153 residue. Alignments were performed using UniProt (Homo sapiens O95180; Rattus norvegicus Q9EQ60; Mus musculus O88427; Pan troglodytes H2QA94; Macaca mulatta A0A1D5R8A8; Felis catus M3WP54; Canis lupus F1PQE5; Ficedula albicollis U3KGY9; Xenopus Tropicalis F6U0H3; Alligator sinensis A0A3Q0GL31). c In silico prediction of the potential impact of the P1210L and ΔI153 mutations on the functioning of Cav3.2 channel

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