Figure 7.

Direct Sanger sequencing validation of the CLN6 c.668A variant in the affected cat. Electropherograms of the ENSFCAT00000025909:c.668G > A; XM_003987007.5:c.668G > A and the flanking nucleotides in CLN6. The affected cat Fcat – 20617 (top trace) is homozygous for the adenine variant, and the control cat Fcat - 4649 (bottom trace) is homozygous wildtype for guanine. Sequence presented as positive strand reading 5′ – 3′. The variant likely disrupts the slice donor site of exon 6, allowing read-through and causing the p.Trp223ter. If splicing is intact, the same termination codon will occur (the third nucleotide of codon 223 (G) is the first nucleotide of exon 7).