Table 1.
Mutations | Gene | Base Change | Codon | AA Change | 10A | 231 | 436 | 453 | Reported in Mitomap |
---|---|---|---|---|---|---|---|---|---|
Haplogroup | HV | X | H | H | |||||
72T>C | HV2 | T>C | − | − | + | − | Yes | ||
73A>G | HV2 | A>G | + | + | − | + | Yes | ||
153A>G | HV2 | A>G | − | + | − | − | Yes | ||
185G>A | HV2 | G>A | + | − | − | − | Yes | ||
185G>A | HV2 | G>T | − | − | − | + | Yes | ||
195T>C | HV2, OH | T>C | − | + | − | − | Yes | ||
225G>A | CSB1 | G>A | − | + | − | − | Yes | ||
226T>CT | CSB1 | T>C | − | + | − | − | Yes | ||
228G>A | CSB1 | G>A | + | − | − | + | Yes | ||
241A>G | mtTF1 binding | A>G | − | − | − | − | Yes | ||
263A>G | HV2 | A>G | + | + | + | + | Yes | ||
295C>T | mtTF1 bidning | C >T | + | − | − | + | Yes | ||
300_301het_insCC | + | − | − | − | Yes | ||||
310T>C | OH, CSB2 | T>C | + | − | − | − | Yes | ||
310_311insC | − | − | + | − | Yes | ||||
315_316insC | OH, CSB2 | insC | − | + | − | − | Yes | ||
462C>T | d-loop | C >T | + | − | − | − | Yes | ||
489T>C | d-loop | T>C | + | − | − | + (ht) | Yes | ||
514_515insAC | − | − | + | − | Yes | ||||
750A>G | MTRNR1 (12S) | A>G | + | + | + | + | Yes | ||
751A>G | MTRNR1 (12S) | A>G | − | − | + | − | novel | ||
1320G>AG | MTRNR1 (12S) | G>A | − | − | + | − | novel | ||
1438A>G | MTRNR1 (12S) | A>G | + | + | + | + | Yes | ||
1719G>A | 16S rRNA | G>A | − | + | − | − | Yes | ||
2285T>C | MTRNR2 (16S) | T>C | − | − | + | − | novel | ||
2706A>G | MTRNR2 (16S) | A>G | + | + | − | − | Yes | ||
3010G>A | MTRNR2 (16S) | G>A | + | − | − | − | Yes | ||
3915G>A | ND1 | G>A | GGG>GGA | G203G | − | − | − | + | Yes |
3992C>T | ND1 | C>T | ACA>ATA | T229M | − | − | + | − | Yes |
4216T>C | ND1 | T>C | TAT>CAT | Y304H | + | − | − | + (ht) | Yes |
4769A>G | ND2 | A>G | ATA>ATG | M100M | + | + | + | + | Yes |
6221T>C | COI | T>C | CCT>CCC | P106P | − | + | − | − | Yes |
6249G>A | COI | G>A | GCT>ACT | A116T | + | − | − | − | novel |
6267G>A | COI | G>A | GCA>ACA | A122T | − | + | − | − | novel |
6371C>T | COI | C >T | TCC>TCT | S156S | − | + | − | − | Yes |
7028C>T | COI | C >T | GCC>GCT | A375A | + | + | − | − | Yes |
7458G>AG | MT-TS1 | G>A | − | − | + (ht) | − | novel | ||
8269G>A | Non-coding | G>A | − | − | + | − | Yes | ||
8860A>G | ATP6 | A>G | ACA>GCA | T112A | + | + | + | + | Yes |
9123G>A | MTATP6 | G>A | CTG>CTA | L199L | − | − | + | − | Yes |
10044A>G | tRNA Gly | A>G | − | − | + | − | Yes | ||
10084T>C | ND3 | T>C | ATC>ACC | I9T | + | − | − | − | Yes |
11251A>G | ND4 | A>G | CTA>CTG | L164L | + | − | − | − | Yes |
11719G>A | ND4 | G>A | GGG>GGA | G320G | + | + | − | − | Yes |
11932C>T | ND4 | C>T | ATC>ATT | I391I | − | + | − | − | novel |
12612A>G | ND5 | A>G | GTA>GTG | V92V | + | − | − | − | Yes |
12705C>T | ND5 | C>T | ATC>ATT | I123I | − | + | − | − | Yes |
13020T>C | ND5 | T>C | GGT>GGC | G228G | − | − | − | − | Yes |
13135G>A | ND5 | G>A | GCA>ACA | A267T | − | + | − | − | Yes |
13708G>A | ND5 | G>A | GCA>ACA | A458T | + | − | − | − | Yes |
13966A>G | ND5 | A>G | ACG>GCG | T544A | − | + | − | − | Yes |
14365C>T | ND6 | C>T | GTG-GTA(Rev) | V103V | − | − | + | − | Yes |
14470T>C | ND6 | T>A | GGA>GGT | G68G | − | + | − | − | novel |
14766C>T | CYTB | C>T | ACT>ATT | T7I | − | + | − | − | Yes |
15034A>G | CytB | A>G | CTA>CTG | L96L | − | + | − | − | Novel |
15326A>G | CYTB | A>G | ACA>GCA | T194A | − | − | − | + | Yes |
15894G>A | MT-TT | G>A | − | + | − | − | novel | ||
16069C>T | HV1 | C >T | + | − | − | − | Yes | ||
16126T>C | HV1 | T>C | + | + | − | − | Yes | ||
16129G>C | HV1 | G>A | − | − | − | + | Yes | ||
16189T>A | HV1 | T>A | − | + | − | − | novel | ||
16223C>T | HV1 | C>T | − | + | − | − | Yes | ||
16278C>T | HV1 | C>T | − | + | − | − | Yes | ||
16319G>A | HV1 | G>A | + | − | − | − | Yes | ||
16519T>C | D-loop | T>C | − | + | − | + | Yes |
Note: ht: heteroplasmy