Table 3 PMEL mutations
From: Exome-based investigation of the genetic basis of human pigmentary glaucoma
| Â | Â | PDS Cohort | Normal Controls | gnomAD | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
|  | Mutation analysis | n = 198 | n = 359 | European (non-Finnish) | ||||||
SNP ID | PMEL Mutation | SIFT | PolyPhen | Blosum62 | Instances | Genotype frequency | Instances | Genotype frequency | Genotype frequency | |
rs750040742 | NM_001320121.1:c.515 T > C | p.Ile172Thr | Deleterious | Possibly Damaging | -1 | 0 | 0% | 1 | 0.28% | 0.015% |
rs200641128 | NM_001320121.1:c.574C > T | p.Arg192Trp | Deleterious | Possibly Damaging | −3 | 0 | 0% | 1 | 0.28% | 0.043% |
NA | NM_001320121.1:c.668G > A | p.Arg223Gln | Tolerated | Benign | 1 | 1 | 0.51% | 0 | 0% | 0.025% |
rs148568175 | NM_001320121.1:c.686A > G | p.Asn229Ser | Tolerated | Benign | 1 | 1 | 0.51% | 2 | 0.56% | 0.47% |
NA | NM_001320121.1:c.812C > A | p.Ser271Tyr | Deleterious | Probably damaging | −2 | 0 | 0% | 1 | 0.28% | 0% |
Total | Â | Â | Â | Â | Â | 2 | 1.0% | 5 | 1.4% | Â |
|  |  |  |  |  |  | p > 0.99 |  | |||