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Table 3 PMEL mutations

From: Exome-based investigation of the genetic basis of human pigmentary glaucoma

   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       2 1.0% 5 1.4%  
       p > 0.99