Summary of Sema4A gene sequencing results
| Exon | Base change | Codon | Amino acid | No of patients/controls | ||||
|---|---|---|---|---|---|---|---|---|
| Pathogenic changes | ||||||||
| 10 | 1033G→C | GAC-CAC | D345H | 4 patients | ||||
| 1049T→G | TTT-TGT | F350C | ||||||
| 15 | 2138G→A | CGG-CAG | R713Q | 4 patients | ||||
| Nonpathogenic changes | ||||||||
| 2 | 39C→A | CTC-CTA | L13L | 6 patients | ||||
| 8 | 762T→C | TTT-TTC | F254F | 11 patients | ||||
| Intron 10 | CAdel, 26bp downstream of exon 10 | 13 patients, 11 controls | ||||||
| 15 | 1716C→T | CCC-CCT | P572P | 9 patients | ||||