Figure 3

Results of Sanger sequencing and a map of the identified mutation locus. (A) A Sanger sequencing electropherogram identifying the missense mutation, c.79G > C (E27Q), is shown. (B) A genome map of the locus surrounding the mutation captured from the UCSC genome browser is depicted. Because TUBA1A is encoded in an antisense manner, the reverse-complement nucleotide sequence is shown. The affected amino acid is indicated by a red rectangle. The c.79C residue is conserved among many species as shown.