Table 3.
Mitochondrial DNA Variances of the Proband in P206 Pedigree
| Locus name | Position | Mutation type | CI | AA position | AA change | haplogroupSNPa | Previously reportedb |
|---|---|---|---|---|---|---|---|
| D-loop | 73 | A to G | 0.4 | Yes | Yes | ||
| D-loop | 150 | C to T | 0.59 | Yes | Yes | ||
| D-loop | 199 | T to C | 0.82 | Yes | Yes | ||
| D-loop | 204 | T to C | 0.78 | NO | Yes | ||
| D-loop | 248 | 248d | 0 | Yes | Yes | ||
| D-loop | 263 | A to G | 0.95 | Yes | Yes | ||
| D-loop | 302 | 302d | 0 | NO | Yes | ||
| D-loop | 310 | 310d | 0 | NO | Yes | ||
| D-loop | 489 | T to C | 0.22 | Yes | Yes | ||
| D-loop | 16129 | G to A | 0.53 | Yes | Yes | ||
| D-loop | 16192 | C to T | 0.8 | Yes | Yes | ||
| D-loop | 16223 | C to T | 0 | Yes | Yes | ||
| D-loop | 16297 | T to C | 0.97 | Yes | Yes | ||
| 12S rRNA | 750 | A to G | 0.95 | Yes | Yes | ||
| 12S rRNA | 1438 | A to G | 0.87 | Yes | Yes | ||
| 12S rRNA | 1555 | A to G | 0.99 | NO | Yes | ||
| 16S rRNA | 2706 | A to G | 0.37 | Yes | Yes | ||
| ND1 | 4048 | G to A | 0.97 | 248 | D to N | Yes | Yes |
| ND1 | 4071 | C to T | 0.95 | 255 | Syn(Y) | Yes | Yes |
| ND1 | 4164 | A to G | 0.98 | 286 | Syn(M) | Yes | Yes |
| ND2 | 4769 | A to G | 0.93 | 100 | Syn(M) | Yes | Yes |
| ND2 | 5252 | G to A | 0.96 | 261 | Syn(L) | NO | Yes |
| ND2 | 5351 | A to G | 0.98 | 294 | Syn(L) | Yes | Yes |
| ND2 | 5460 | G to A | 0.03 | 331 | A to T | Yes | Yes |
| CO1 | 6455 | C to T | 0.92 | 184 | Syn(F) | Yes | Yes |
| CO1 | 6680 | T to C | 0.93 | 259 | Syn(T) | Yes | Yes |
| CO1 | 7028 | C to T | 0.39 | 375 | Syn(A) | Yes | Yes |
| CO2 | 7598 | G to A | 0.91 | 5 | A to T | NO | Novel |
| CO2 | 7684 | T to C | 0.98 | 33 | Syn(L) | Yes | Yes |
| CO2 | 7853 | G to A | 0.95 | 90 | V to I | Yes | Yes |
| ATP6 | 8701 | A to G | 0.07 | 59 | T to A | Yes | Yes |
| ATP6 | 8860 | A to G | 0.98 | 112 | T to A | Yes | Yes |
| CO3 | 9540 | T to C | 0.08 | 112 | Syn(L) | Yes | Yes |
| CO3 | 9824 | T to C | 0.86 | 206 | Syn(L) | Yes | Yes |
| ND3 | 10398 | A to G | 0.01 | 114 | T to A | Yes | Yes |
| ND3 | 10400 | C to T | 0.16 | 114 | T to A | Yes | Yes |
| ND4 | 10873 | T to C | 0.08 | 38 | Syn(P) | Yes | Yes |
| ND4 | 11719 | G to A | 0.28 | 320 | Syn(G) | Yes | Yes |
| ND4 | 11800 | A to G | 0.99 | 347 | Syn(G) | NO | Yes |
| ND5 | 12405 | C to T | 0.98 | 23 | Syn(L) | Yes | Yes |
| ND5 | 12705 | C to T | 0 | 123 | Syn(I) | Yes | Yes |
| ND5 | 12811 | T to C | 0.98 | 159 | Y to H | Yes | Yes |
| Cytb | 14766 | C to T | 0.27 | 7 | T to I | Yes | Yes |
| Cytb | 14783 | T to C | 0.16 | 13 | Syn(L) | Yes | Yes |
| Cytb | 15043 | G to A | 0.13 | 99 | Syn(G) | Yes | Yes |
| Cytb | 15301 | G to A | 0.08 | 185 | Syn(L) | Yes | Yes |
| Cytb | 15326 | A to G | 0.95 | 194 | T to A | Yes | Yes |
The highest CI is 1, which means this site is completely conservative in 43 primate species. A CI value of 0.91 indicates 39 of 43 primate species have the same allele with the queried variant.
a
Haplogroup M7b1's SNPs.
b
See the online MITOMAP database.
CI, conservation index; AA, amino acid.