Table 3.
Frequency distribution of Mt-Cytochrome C oxidase variants in pompe and controls
| Infant/Adult | Nucleotide | Locus | Amino acid change | R/N.R | Hm/Ht | Pompe | Control | P value |
|---|---|---|---|---|---|---|---|---|
| + | + | |||||||
| Adult | A7933G | Cyto co2 | p.L116L | R | Hm | 1 | 1 | 0.388 |
| C7939T | Cyto co2 | p.F118F | R | Hm | 1 | 0 | 0.219 | |
| A8170G | Cyto co2 | p.Gln195Gln | R | Hm | 1 | 0 | 0.219 | |
| T9581C | Cyto co3 | p.Asn125Asn | R | Hm | 1 | 0 | 0.219 | |
| G9986A | Cyto co3 | p.Gly260Gly | R | Hm | 1 | 1 | 0.388 | |
| Infant | T7645C | MT co2 | p.L20L | R | Hm | 1 | 1 | 0.388 |
| G7805A | MT-CO2 | p.Val74IL | R | Hm | 1 | 0 | 0.219 | |
| G7859A | MT-CO2 | p.D92N | R | Hm | 1 | 0 | 0.219 | |
| T7861C | MT-CO2 | p.D92D | R | Hm | 1 | 1 | 0.388 | |
| C7945T | MT-CO2 | p.S120S | R | Hm | 1 | 0 | 0.219 | |
| C7990A | MT-CO2 | p.L135L | R | Hm | 1 | 0 | 0.219 | |
| A8014T | MT-CO2 | p.V143V | R | Hm | 1 | 0 | 0.219 | |
| C8137T | MT-CO2 | p.F184F | R | Hm | 1 | 2 | 0.520 | |
| G8206A | MT CO2 | p.Met207Met | R | Hm | 1 | 3 | 0.990 | |
| C9227G | Cyto co3 | p.Ala7Ala | N.R | h.t | 1 | 0 | 0.219 | |
| A9336G | Cyt co3 | p.Met44Val | R | Hm | 1 | 0 | 0.219 | |
| T9530C | Cyto co3 | p.P108P | R | Hm | 1 | 1 | 0.388 | |
| C9776T | cyto co3 | p.Asp190Asp | R | Hm | 1 | 0 | 0.219 | |
| T9949G | Cyto co3 | p.Val248Gly | R | Hm | 1 | 0 | 0.219 | |
| T9963G | MT-Co3 | p.Tyr253Asp | R | Hm | 1 | 0 | 0.219 | |
| Both | G8269A | MT-CO2 | p.X228X | R | Hm | 3 | 0 | 0.219 |
| T9540C | cyto co3 | p.L112L | R | Hm | 3 | 0 | 0.219 | |
R and N.R; Denote reported and not reported, respectively and Hm and Ht; Denotes homoplasmy and heteroplasmy, respectively.