Results of sequencing five patients with MELAS
| Patient | Nucleotide change | Gene | Reference |
|---|---|---|---|
| 1 | T5999C silent | COI | This report |
| A6047G silent | COI | This report | |
| C7028T silent | COI | Ballingeret al 8 | |
| T7705C silent | COII | This report | |
| A8308G | tRNA Lys | Obayashi et al 9 | |
| A9383G silent | COIII | This report | |
| A12308G | tRNA Leu(CUN) | Houshmand et al 10 | |
| 2 | G6734A silent | COI | This report |
| G8251A silent | COII | Ruvolo et al 11 | |
| G9947A silent | COIII | This report | |
| A10034G | tRNA Gly | Marzuki et al 12 | |
| T15924C | tRNA Thr | Brown et al 13 | |
| 3* | G583A | tRNA Phe | This report |
| 4 | 514CA deletion | D-loop | Ozawa et al 14 |
| C7028T silent | COI | Ballinger et al 8 | |
| A8860G | ATPase6 | Ballinger et al 8 | |
| C9559G Phe to Arg | COIII | Kobayashiet al 15 | |
| T10166C silent | ND4L | This report | |
| 5 | G4580A silent | ND2 | Huoponen et al 16 |
| A8982G silent | ATPase6 | This report | |
| A8860G Thr to Ala | ATPase6 | Ballinger et al 8 | |
| C9559G Phe to Arg | COIII | Kobayashiet al 15 | |
| C15904T | tRNA Thr | Houshmand et al 10 |
Silent indicates nucleotide change does not result in an amino acid substitution. The following abbreviations have been used: G=guanine; C=cytosine; A=adenine; T=thymine; CO=cytochrome c oxidase subunit gene; tRNA=transfer RNA gene; Lys=lysine; Arg=arginine; Thr=threonine; Phe=phenylalanine; Ala=alanine; Tryp=tryptophan; Gly=glycine; Leu=leucine; ND=nicotinamide adenine dehydrogenase subunit gene; ATPase=ATP synthase subunit gene; D-loop=displacement loop.*Pathogenic mutation.