Table 2.
mtDNA haplogroup associations and non-synonymous nucleotide changes relative to the revised Cambridge Sequence
| Cybrid cell line | GenBank ID | NARP mutation | Haplogroup | Non-synonymous base change | Amino acid change |
|---|---|---|---|---|---|
| JC | GQ891609 | T8993G | U5b | G6300A (COX1)a | Ala > Thr |
| C12092T (ND4) | Leu > Phe | ||||
| G13630A (ND5)a | Thr > Ala | ||||
| A13637G (ND5) | Gln > Arg | ||||
| A15326G (CYTB) | Thr > Ala | ||||
| T15372C (CYTB)a | Leu > Pro | ||||
| G15497A (CYTB) | Gly > Ser | ||||
| G15803A (CYTB) | Val > Met | ||||
| AT | GQ891610 | T8993G | U1 | G6081A (COX1) | Ala > Thr |
| A11928G (ND4) | Asn > Ser | ||||
| A15326G (CYTB) | Thr > Ala | ||||
| TU | GQ891611 | T8993G | H13 | A15218G (CYTB) | Thr > Ala |
| LR | GQ891612 | T9176G | N1b2 | C4735A (ND2) | Thr > Asn |
| A4917G (ND2) | Asn > Asp | ||||
| C4960T (ND2) | Ala > Val | ||||
| C8472T (ATP8) | Pro > Leu | ||||
| C12092T (ND4) | Leu > Phe | ||||
| A15326G (CYTB) | Thr > Ala | ||||
| DM | GQ891613 | T8993C | U2 | A15326G (CYTB) | Thr > Ala |
| C14766T (CYTB) | Thr > Ile |
In bold are substitutions of highly conserved amino acids in conserved stretches of proteins.
aSubstitutions never reported before and confirmed by RFLP analysis.