Types of mutations correlate with the expression of WASP
Mutation type . | WASP+ families affected (%) . | WASP− families affected (%) . |
|---|---|---|
| Missense | 51 (73.9) | 10 (11) |
| Splice | 8 (l* = 1, V* = 7) (11.6) | 23 (l* = 19, V* = 4) (25.3) |
| Complex | 4 (5.8) | 4 (4.4) |
| Deletion/insertion | 5 (7.2) | 32 (35.1) |
| Nonsense | 1 (1.5) | 22 (24.2) |
| Totals | 69 (100) | 91 (100) |
Mutation type . | WASP+ families affected (%) . | WASP− families affected (%) . |
|---|---|---|
| Missense | 51 (73.9) | 10 (11) |
| Splice | 8 (l* = 1, V* = 7) (11.6) | 23 (l* = 19, V* = 4) (25.3) |
| Complex | 4 (5.8) | 4 (4.4) |
| Deletion/insertion | 5 (7.2) | 32 (35.1) |
| Nonsense | 1 (1.5) | 22 (24.2) |
| Totals | 69 (100) | 91 (100) |
The distribution of mutations observed in WASP+ and WASP− families is significantly different (ϰ2 = 72.3, 4 df, P < .001). The association was also highly significant, using the r × c version of the Fisher exact test (P < .001). l* indicates invariant sites; V*, variant sites.