Table 1. Summary of extremely rare NLGN1 variants found in ASD.
| No. | Proband ID (Collection) |
sex | Position (hg19) |
Alt (Ref) | Amino acid Change |
Inheritance |
|---|---|---|---|---|---|---|
| 1 | AU072904 (AGRE) | M | Chr3: 173322654 | T (C) | p.Pro89Leu | Maternal |
| 2 | AU072905 (AGRE) | M | ||||
| 3 | 13876.p1 (SSC) | M | Chr3: 173993264 | C (T) | p.Leu269Pro | Paternal |
| 4 | 11045.p1 (SSC) | M | Chr3: 173996681 | A (G) | p.Gly297Glu | Maternal |
| 5 | 12157.p1 (SSC) | M | Chr3: 173999004 | T (C) | p.His795Tyr | de novo |
| 6 | NA (CHOP) | NA | Chr3: 173322657 | T (C) | p.Thr90Ile | NA |
| 7 | NA (CHOP) | NA | NA |
NA, not available.