Table 3.
Mutation | Normal | Heterozygous | Homozygous mutation |
---|---|---|---|
35delG | 0.75 to 1.00 | 0.40 to 0.65 | 0.01 to 0.17 |
W24X | 0.89 to 1.00 | 0.48 to 0.80 | 0.09 to 0.33 |
M34T | 0.81 to 1.00 | 0.33 to 0.55 | 0.07 to 0.25 |
V37I | 0.82 to 1.00 | 0.38 to 0.59 | 0.00 to 0.28 |
167delT | 0.80 to 1.00 | 0.36 to 0.58 | 0.00 to 0.18 |
235delC | 0.81 to 1.00 | 0.46 to 0.62 | 0.00 to 0.36 |
L90P | 0.87 to 1.00 | 0.38 to 0.60 | 0.00 to 0.28 |
313del14 | 0.82 to 1.00 | 0.63 to 0.80 | 0.00 to 0.58 |
R143W | 0.80 to 1.00 | 0.41 to 0.67 | 0.00 to 0.31 |
A1555G | (0.65 to 1.00) | (0.00 to 0.14) | |
2299delG | 0.91 to 1.00 | 0.53 to 0.85 | 0.21 to 0.37 |
L236P | 0.70 to 1.00 | 0.27 to 0.65 | 0.00 to 0.17 |
IVS8 + 1 | 0.82 to 1.00 | 0.29 to 0.63 | 0.00 to 0.19 |
E384G | 0.91 to 1.00 | 0.50 to 0.81 | 0.00 to 0.40 |
T416P | 0.90 to 1.00 | 0.37 to 0.80 | 0.00 to 0.27 |
The values for the mitochondrial A1555G mutation are in paren-theses because the level of this mutation can vary from 0 to 100% (heteroplasmy).