Table 1.
Kirrel3 Missense variants associated with neurodevelopmental disorders
| Variant ID | Amino acidchange | Associatedconditions | Reference |
|---|---|---|---|
| rs182260035 | Val30Met | ASD | De Rubeis et al., 2014 |
| rs119462978 | Arg40Trp | ID | Bhalla et al., 2008 |
| rs779979146 | Arg161His | ASD | Iossifov et al., 2014; Yuen et al., 2016 |
| rs376743687 | His171Gln | ASD | De Rubeis et al., 2014 |
| rs572991045 | Arg205Gln | ASD | De Rubeis et al., 2014 |
| Lys212Asn | ASD | De Rubeis et al., 2014 | |
| rs372786849 | Ser241Leu | ASD | Li et al., 2017 |
| rs201725914 | Val303Ala | ASD | De Rubeis et al., 2014 |
| rs114378922 | Arg336Gln | ID | Bhalla et al., 2008 |
| Trp358Cys | ASD | Li et al., 2017 | |
| rs201882059 | Ala393Thr | ASD | Wang et al., 2016 |
| rs369363937 | Ala393Val | ASD | Wang et al., 2016 |
| rs1053637755 | Gln428Lys | ASD | Li et al., 2017 |
| rs760499655 | Pro446Leu | ASD | Li et al., 2017 |
| Arg562Leu | ASD | Leblond, et al., 2019 | |
| rs773312950 | Arg650His | ASD | Guo et al., 2019 |
| rs1057519593 | M6731I | ID, ADHD | Present study |
| rs119462980 | Val731Phe | ID | Bhalla et al., 2008 |