Fig. 3From: Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case reportSanger validation and conservation of the novel discovered VPS13A nonsense mutation. a Sanger sequencing confirms the presence of the Gln113* mutation in VPS13A at heterozygous and homozygous state; b Partial amino acid sequence alignment of human VPS13A with orthologs shows evolutionary conservation between species of the Glutamine residueBack to article page