Table 4.
Novel mutations in SOX5 were identified in LOAD patients
| Variants | Missense |
Splice-site | ||
|---|---|---|---|---|
| R36T | T74M | H721R | 1018-1G>A | |
| Exon | 2 | 2 | 15 | 11 |
| Code change | AGA - ACA | ACG - ATG | CAT- CGT | |
| Nucleotide Change | G107C | C221T | A2162G | Exon11-1G>A |
| CADD C-Score Predication | C-Score 24.8 | C-Score 18.64 | C-Score 11.67 | |
| INSIGHT Fitcon Scores Predication | Fitcon Score:0.447 | Fitcon Score:0.447 | Fitcon Score:0.55 | |
| PolyPhen-2 Predication | Possibly damaging (Score 0.791) | Benign (Score 0.342) | Possibly damaging (Score 0.791) | |
| Risk or Protection Allele | Risk | Protection | Risk | Risk |
| No.of carrier families | 1 | 1 | 1 | 1 |
| Number of Affected/Number of SOX5 Mutation carriers | 2/2 | 2/0 | 2/2 | 2/2 |
| Number of Unaffected/Number of SOX5 Mutation carriers | 0 | 3/3 | 2/1 | 0 |
| APOE-ε4 status | 2 affected were heterozygous | 2 unaffected were homozygous; 1 unaffected was heterozygous | All 4 were heterozygous | 1 affected was heterozygous |