Fig. 2

Genetic abnormalities and consequent alterations of protein of SYNE1 ataxia patients and their parents. a: SYNE1 gene mutations in AT-04 patient and the parental origin of these variations. b: SYNE1 gene abnormalities in AT-05 and AT-06 subjects and the parental segregation of these mutations. The upper parts of the bars denote the DNA sequence, while the lower parts show the encoded amino acids of the protein. Yellow bars indicate the pathogenic alleles, white bands mark the normal alleles. Red highlights the nucleotide change of the SYNE1 gene. In part (b), the c.23146-2A > G mutation is located in the intron–exon boundary resulting in an abnormal splicing variant