Fig. 1
Identification of a mutation in CACNA1G causing SCA. a Pedigree charts of families 1 and 2. Arrows indicate the probands. Filled and open symbols represent affected and unaffected individuals, respectively. Genotypes of the variant c.5144G > A are shown under the number of samples. Asterisks indicate the patients used for exome sequencing. b, c Results of linkage analysis. Arrows indicate the positions of CACNA1G. d Sanger sequencing to confirm the CACNA1G variant. The reference nucleotide G is overlapped with variant nucleotide A in the mutant sample. e Structure of CaV3.1 encoded by CACNA1G. The star indicates the position of the identified mutation. The mutation was located in the segment 4 (S4) of the fourth repeat. f Conservation at the location of the mutation. The nucleotide and amino acid sequences are completely conserved among vertebrates. g Haplotype analysis. From the result of SNP genotyping, the haplotypes of both families around the CACNA1G gene coincided for 360 kb