Table 3.
List of non-synonymous KPBD mutations. Non-synonymous mutations found in the kelch13 propeller and BTB-POZ domains (KPBD) and their position on chromosome Pf3D7_13_v3. For each mutation is reported where it has been observed and in how many samples. Where known, we reported if the mutation has been previously observed in patients with a prolonged parasite clearance half-life (>5 hr) by Miotto et al. 2014 and/or Ashley et al 2014. Sample size is reported for each population.
| Mutation | Genomic coordinates | AFR (N = 1,648) |
SEA (N = 1,599) |
SAS (N = 75) |
OCE (N = 62) |
SAM (N = 27) |
Observed in ART-R samples? |
|---|---|---|---|---|---|---|---|
| D353Y | 1725941 | - | 4 | - | - | - | Yes |
| F395Y | 1725814 | - | 1 | - | - | - | No |
| I416V | 1725752 | 1 | 1 | - | - | - | |
| I416M | 1725750 | 1 | - | - | - | - | |
| K438N | 1725684 | - | 1 | - | - | - | No |
| P441L | 1725676 | - | 27 | - | - | - | Yes |
| P443S | 1725671 | - | 1 | - | - | - | |
| F446I | 1725662 | - | 7 | - | - | - | Yes |
| G449A | 1725652 | - | 7 | - | - | - | Yes |
| S459L | 1725622 | 2 | 2 | - | - | - | |
| A481V | 1725556 | - | 4 | - | - | - | Yes |
| S485N | 1725544 | - | 1 | - | - | - | |
| Y493H | 1725521 | 1 | 76 | - | - | - | Yes |
| V520I | 1725440 | 1 | - | - | - | - | |
| S522C | 1725434 | 2 | 1 | - | - | - | Yes |
| P527H | 1725418 | 1 | 5 | - | - | - | |
| C532S | 1725404 | 1 | - | - | - | - | |
| V534L | 1725398 | 2 | - | - | - | - | |
| N537I | 1725388 | 1 | 1 | - | - | - | No |
| G538V | 1725385 | - | 19 | - | - | - | Yes |
| R539T | 1725382 | - | 63 | - | - | - | Yes |
| I543T | 1725370 | - | 34 | - | - | - | Yes |
| P553L | 1725340 | 2 | 24 | - | - | - | Yes |
| A557S | 1725329 | 1 | - | - | - | - | |
| R561H | 1725316 | 1 | 24 | - | - | - | Yes |
| V568G | 1725295 | - | 6 | - | - | - | Yes |
| T573S | 1725280 | 2 | - | - | - | - | |
| P574L | 1725277 | - | 12 | - | - | - | Yes |
| R575K | 1725274 | - | 3 | - | - | - | |
| A578S | 1725266 | 18 | - | - | - | - | No |
| C580Y | 1725259 | 2 | 423 | - | 1 | - | Yes |
| D584V | 1725247 | - | 3 | - | - | - | Yes |
| V589I | 1725233 | 2 | - | - | - | - | |
| T593S | 1725221 | 1 | - | - | - | - | |
| E612D | 1725162 | 1 | - | - | - | - | |
| Q613E | 1725161 | 5 | 1 | - | - | - | |
| Q613L | 1725160 | 1 | - | - | - | - | No |
| F614L | 1725158 | - | 1 | - | - | - | No |
| Y630F | 1725109 | 2 | 1 | - | - | - | |
| V637I | 1725089 | 2 | - | - | - | - | |
| P667A | 1724999 | - | 2 | - | - | - | |
| P667L | 1724998 | - | 2 | 1 | - | - | |
| F673I | 1724981 | - | 3 | - | - | - | Yes |
| A675V | 1724974 | 1 | 18 | - | - | - | Yes |
| A676S | 1724972 | 2 | 3 | - | - | - | |
| H719N | 1724843 | 1 | 8 | - | - | - | Yes |