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Fig. 5 | Molecular Brain

Fig. 5

From: The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Fig. 5

CaV2.1 structural model. a Most probable 3D side model of the CaV2.1α1 subunit. Position 1384 is shown in red. b Close up of the 1384 locus. Tyrosine1384 is shown in red and Cysteine 1384 in blue. In black are the changes caused by the substitution Y1384C. Insets show Tyrosine (top) or Cysteine (bottom) models. c Electrostatic potential distribution in transmembrane segments IIIS5 and IIIS6 and the connecting linker of CaV2.1α1 (left) and Y1384C (right). The electrostatic potential of the analyzed region is shown in red (negative) and blue (positive). Red arrows denote the location of the mutation. Black arrows show changes in electrostatic potential

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