Table 2.
Worldwide distribution of kelch13 mutations. Number of kelch13 propeller and BTB-POZ domain (KPBD) mutations present (not necessarily exclusively) in 5 populations (AFR = Africa, SEA = Southeast Asia, SAS = South Asia, OCE = Oceania, SAM = South America). Sample size is reported for each population.
| AFR (N = 1,648) |
SEA (N = 1,599) |
SAS (N = 75) |
OCE (N = 62) |
SAM (N = 27) |
||
|---|---|---|---|---|---|---|
| Non-synonymous | KPBD | 26 | 34 | 1 | 1 | 0 |
| Upstream region | 42 | 16 | 2 | 1 | 1 | |
| Synonymous | KPBD | 38 | 9 | 1 | 0 | 0 |
| Upstream region | 22 | 3 | 1 | 0 | 0 |