Table 2.
The Tm value of the four prevalent SLC25A13 mutations in the MMCA Assay.
| Channel | Genotype | Tm1°C (Mutant) (mean ± SD) | Tm2°C (Wild-type) (mean ± SD) | ΔTm (Tm2-Tm1) (mean) |
|---|---|---|---|---|
| FAM | c.851_854del | 63.86 ± 0.10 | 71.25 ± 0.07 | 7.39 |
| CY5 | c.1638_1660dup | 75.52 ± 0.10 | 69.70 ± 0.08 | –5.82 |
| CY5 | IVS6+5G>A | 51.29 ± 0.15 | 58.30 ± 0.09 | 7.01 |
| ROX | IVS16ins3kb | 57.45 ± 0.08 | 67.21 ± 0.08 | 9.75 |