Figure 1 | Human Genome Variation

Figure 1

From: A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

Figure 1

Molecular characterization of the mutation c.1795+1G>A. (a) Visualization of the boundary of exon 12 of SPTB gene using IGV (the mutation is shown as a C→T change because IGV always displays the forward strand, and in the SPTB gene, the coding strand is the reverse one). (b) Sanger sequencing of PCR-amplified genomic DNA of exon 12 of the SPTB gene confirms that the nucleotide +1 in intron 12 was changed from G to A. IGV, integrative genome viewer.

Back to article page