Table 1.
Sequence variants of mitochondrial ribosomal proteins (MRPs) in TH mice (Denvir et al., 2016).
| Gene | AA B6/TH | AA position | UniProtKB | SIFT score |
|---|---|---|---|---|
| Mitochondrial ribosomal protein mutations | ||||
| MRPL20 | stop lost | 97 | Q9CQL4 | |
| MRPS11 | R/L | 13 | Q9DCA2 | 0.12 |
| L/R | 70 | 0.06 | ||
| MRPL22 | A/T | 4 | Q8BU88 | 0.26 |
| MRPL49 | L/F | 6 | Q9CQ40 | 1.00 |
| MRPL48 | I/V | 148 | Q8JZS9 | 1.00 |
| MRPS35 | T/S | 11 | Q8BJZ4 | 0.37 |
| C/Y | 216 | 1.00 | ||
| I/V | 293 | 1.00 | ||
| MRPL3 | I/T | 32 | Q99N95 | 0.48 |
| MRPL19 | C/R | 39 | Q9D338 | 0.35 |
| E/Q | 72 | 0.20 | ||
| MRPL39 | K/R | 133 | Q9JKF7 | 0.49 |
| V/A | 280 | 0.52 | ||
| MRPL55 | L/F | 19 | Q9CZ83 | 0.65 |
AA: amino acid. Mitochondrial ribosomal small (MRPS) and (MRPL) subunit proteins. Sorting intolerant from tolerant (SIFT) scores are shown to predict if the amino acid substitution is deleterious (SIFT < 0.05) or tolerated/neutral (Zerbino et al., 2018).