Table 2 Loss-of-function mutations in candidate genes
From: Exome-based investigation of the genetic basis of human pigmentary glaucoma
| Â | Â | Â | Â | PDS Cohort | Normal Controls | Â | gnomAD v2.1.1 | ||
|---|---|---|---|---|---|---|---|---|---|
|  |  | Loss of function mutation |  | n = 198 | n = 359 |  | European (non-Finnish) | ||
Gene | SNP ID | Mutation | Encoded protein | Instances | Genotype frequency | Instances | Genotype frequency | P-value | Genotype frequency |
LYST | NA | NM_001301365.1:c.8501C > A | p.Ser2834Ter | 1 | 0.51% | 0 | 0 | 0.36 | 0% |
TYRP1 | rs749735228 | NM_00550.3:c.410_413dupGTAA | p.Glu139Ter | 1 | 0.51% | 0 | 0 | 0.36 | 0.0017% |
GPNMB | rs758729806 | NM_002510.3: c.310_323delAGATGCCAAAAGGA | p.Lys107TrpfsTer6 | 0 | 0 | 1 | 0.28% | > 0.99 | 0.16% |