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Figure 3 | BMC Research Notes

Figure 3

From: Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

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.

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