Figure 7. A) The position of three missense mutations (Thr112Ala, Arg118Gly, and His172Arg) and changes of related amino acids in the secondary structure of the ATPase6 protein, B, C, and D) Sequencing results of three heterozygous missense variations in ATPase6 gene in CHD patients. Two patients with VSD symptoms showed two nucleotide variations in the ATPase6 gene, simultaneously: C8859G (Gly111Gly) and A8860G (Thr112Ala) variations in a 1.5-years-old girl, and C8874G (Gly116Gly) and C8878G (Arg118Gly) variations in a 6-months-old boy.
