Table 2. Missense variations detected in 21 ALPS, 20 DALD, 38 MS patients, and 61 healthy controls.
| Functional effect‡ | ALPS | DALD | Controls | MS | |
|---|---|---|---|---|---|
| (N=42)* | (N=40)* | (N=122)* | (N=76)* | ||
| Frequent variations† | |||||
| Arg928Cys | Not performed | 1 | 2 | 8 | 2 |
| Ala59Thr | Not performed | 1 | 1 | 5 | 3 |
| Total alleles with frequent variations | 2 | 3 | 13 | 5 | |
| Private variations† | |||||
| Ile848Leu‡ | Loss-of-function‡ | 1 | 0 | 0 | 0 |
| Ala995Pro‡ | Loss-of-function‡ | 1 | 0 | 0 | 0 |
| Cys112Ser | Loss-of-function | 1 | 0 | 0 | 0 |
| Val781Ile | Loss-of-function | 1 | 0 | 0 | 0 |
| Pro271Ser | Normal Function | 0 | 0 | 1 | 0 |
| Total alleles with loss of function | 3 | 0 | 0 | 0 | |
| p=0.03 § | |||||
* allele numbers
† amino acid substitution
‡ carried in the same allele
§ P value vs Controls (Fisher exact test)