Table 1.
mtDNA point mutations identified in patients with autism
| Nucleotide position | Locus | Amino acid change | Frequency (%) | Reported in other disease |
|---|---|---|---|---|
| G8251A | MT-CO2 | G→G | 2 (8.3) | (13) |
| G8269A | MT-CO2 | (in stop codon) | 1 (4.16) | (14) |
| A8271G | MT-NC7 | (in noncoding region) | 1 (4.16) | (15) |
| C8472T | MT-ATP8 | P→L | 3 (12.5) | (16) |
| C8684T | MT-ATP6 | T→I | 1 (4.16) | (17) |
| G8697A | MT-ATP6 | M→I | 5 (20.83) | (15) |
| A8701G | MT-ATP6 | T→A | 1 (4.16) | (18) |
| A8836G | MT-ATP6 | M→V | 3 (12.5) | (19) |
| G8865A | MT-ATP6 | V→V | 1 (4.16) | (20) |
G; Glycine, P; Proline, L; Lysine, T; Threonine, I; Isoleucine, M; Methionine, A; Alanine and V; Valine.