Table 1.
FOXP1 mRNA structural analysis. A) FOXP1 mRNA secondary structure predictions observed in mother and sister's (control) sequence. A stable stem‐loop structure can be seen with the TG tandem repeat identified in close‐up. (B) Patient 1 and his father's secondary structure predictions can be seen alongside additional variants from the NCBI ClinVar database
| A |
|---|
|
| B | |||||
|---|---|---|---|---|---|
| Loc. | NCBI 1000 Genomes Browser | Variant | Associated Condition | Clinical Significance | mRNA Secondary structure |
| c.3403 | rs886058829 | del T | ID with language impairment and autistic features | Uncertain |
|
| c.3407_3414 | rs142202281 | dup TGTGTGTG | ID with language impairment and autistic features | Uncertain |
|
| c.3411_3414 | rs551672258 | del TGTG | ID with language impairment and autistic features | Uncertain |
|
| c.3413_3414 | rs886058828 | del TG (Patient 1) | ID with language impairment and autistic features | Uncertain |
|
| c.3413_3414 | rs143202281 | dup TG (Patient 1's father) | ID with language impairment and autistic features | Uncertain |
|
| c.3415 | rs886058827 | delC ins TGTGTGTGTGT | ID with language impairment and autistic features | Uncertain |
|
| c.3419_3420 | rs886058825 | dup CG | ID with language impairment and autistic features | Uncertain |
|