TABLE 4.
AQP4 and GPRC5B variants found in MLC patients.
| Exon/Intron | DNA | Protein | Variant type | Pathogenicity (ACMG guidelines) | References | Extra info |
|---|---|---|---|---|---|---|
| AQP4 | ||||||
| 4 | c.643G>A | p.(Ala215Thr) | Missense | Likely pathogenic | Passchier et al. (2023) | Functional experiments show severe reduction protein levels and PM localization (Passchier et al., 2023). Discussed in section 3.3 |
| GPRC5B | ||||||
| 2 | c.526_528dup | p.(Ile176dup) | Duplication | Likely pathogenic | Passchier et al. (2023) | Discussed in section 3.4 |
| 2 | c.528_530dup | p.(Ala177dup) | Duplication | Likely pathogenic | Passchier et al. (2023) | Discussed in section 3.4 |