Figure 1
From: A canine model of Cohen syndrome: Trapped Neutrophil Syndrome
Partial DNA sequence, sequence electropherogram and amino acid sequence for VPS13B region containing TNS mutation for normal (Norm) and mutant (Mut) genomic sequence (above) with translation (below). Underlined aa represent expected aa after the frameshift due to deletion, stop codon represented by *. Number on DNA sequence represents expected location on cDNA of isoform variant 1