Correlation of phenotype, genotype, and WASP Western blot finding
. | WASP . | . | |
|---|---|---|---|
| Score . | Positive . | Negative . | |
| Missense | 16 | 0 | |
| 1, 2 | 11 | 0 | |
| 3, 4 | 1 | 0 | |
| 5A | 4 | 0 | |
| Nonsense | 0 | 5 | |
| 3, 4 | 0 | 5 | |
| Deletion | 0 | 7 | |
| 1, 2 | 0 | 1 | |
| 3, 4 | 0 | 5 | |
| 5A/M | 0 | 1 | |
| Large deletion | 0 | 3 | |
| 3, 4 | 0 | 1 | |
| 5A | 0 | 1 | |
| 5A/M | 0 | 1 | |
| Insertion | 0 | 1 | |
| 5M | 0 | 1 | |
| Splice anomaly | 11 | 7 | |
| 1, 2 | 5 | 0 | |
| 3, 4 | 3 | 3 | |
| 5A | 3 | 2 | |
| 5M | 0 | 2 | |
. | WASP . | . | |
|---|---|---|---|
| Score . | Positive . | Negative . | |
| Missense | 16 | 0 | |
| 1, 2 | 11 | 0 | |
| 3, 4 | 1 | 0 | |
| 5A | 4 | 0 | |
| Nonsense | 0 | 5 | |
| 3, 4 | 0 | 5 | |
| Deletion | 0 | 7 | |
| 1, 2 | 0 | 1 | |
| 3, 4 | 0 | 5 | |
| 5A/M | 0 | 1 | |
| Large deletion | 0 | 3 | |
| 3, 4 | 0 | 1 | |
| 5A | 0 | 1 | |
| 5A/M | 0 | 1 | |
| Insertion | 0 | 1 | |
| 5M | 0 | 1 | |
| Splice anomaly | 11 | 7 | |
| 1, 2 | 5 | 0 | |
| 3, 4 | 3 | 3 | |
| 5A | 3 | 2 | |
| 5M | 0 | 2 | |
WASP-positive numbers represent WASP detectable by Western blot. WASP-negative numbers represent WASP found absent or truncated by Western blot. All scores are clinical scores.9,13