Table 1.
Identifying likely breakpoints in Pt#946 by pairwise alignment of Alu sequences in the 5′ candidate region within intron 3 and the 3′ candidate region downstream of exon 47 of the CACNA1A gene, represented by the number of identical sequences (percentage).
| 5′ | AluJb | AluJo | AluJo | FLAM_A | AluSx | AluY | AluJo | AluSx | |
|---|---|---|---|---|---|---|---|---|---|
| 3′ | Chr19 | 13381369–13381681 | 13382049–13382329 | 13383539–13383829 | 13384042–13384176 | 13384280–13384590 | 13384908–13385219 | 13387925–13388208 | 13390705–13390983 |
| FLAM_C | 13176912–13177025 | – | – | – | – | – | – | – | – |
| AluSg | 13176596–13176896 | – | – | – | – | 257/305 (84%) | 261/307 (85%) | – | – |
| AluY | 13175810–13176105 | – | – | – | – | 249/298 (83%) | – | – | 185/222 (83%) |
| AluJo | 13175564–13175781 | – | – | – | – | – | – | – | – |
| AluSp | 13175204–13175513 | – | – | – | – | 241/289 (83%) | 261/315 (82%) | – | 216/247 (87%) |
| AluJb | 13175036–13175203 | – | – | – | – | 120/146 (82%) | – | – | 116/142 (81%) |
| AluSg | 13173135–13173429 | – | – | – | – | – | – | – | 195/242 (80%) |
| AluSx | 13172831–13173131 | – | – | – | – | – | 226/272 (83%) | – | – |
| FRAM | 13172654–13172818 | – | – | – | – | – | – | – | – |
| AluSg | 13172298–13172623 | – | – | – | – | 229/265 (86%) | – | – | 178/207 (85%) |
| FLAM_A | 13172163–13172289 | – | – | – | – | – | – | – | – |
| AluSx | 13171847–13172153 | – | – | – | – | – | – | – | 220/249 (88%) |
| AluSq | 13171453–13171759 | – | – | – | – | – | – | – | – |
| AluSq | 13171147–13171447 | – | – | – | – | – | – | – | – |
| AluSx | 13169651–13169941 | – | – | – | – | – | – | – | – |
| AluJb | 13169165–13169471 | – | – | – | – | – | – | – | – |
| AluSx | 13169067–13169157 | – | – | – | – | – | – | – | – |
| AluY | 13168759–13169066 | – | – | – | – | 258/313 (82%) | 268/304 (88%)* | – | 209/254 (82%) |
| AluSx | 13168531–13168758 | – | – | – | – | – | – | – | – |
| AluSc | 13168216–13168522 | – | – | – | – | – | 262/305 (85%) | – | – |
| AluSx | 13167359–13167630 | – | – | – | – | – | – | – | – |
| AluSc | 13167162–13167358 | – | – | – | – | – | – | – | – |
| FRAM | 13166988–13167149 | – | – | – | – | – | – | – | – |
| AluSx | 13166657–13166965 | – | – | – | – | – | – | – | – |
Highlighted in bold and designated with * is the Alu pair confirmed to harbor the breakpoints. No significant similarity is represented by “–.”