Skip to main content

Table 4 MRAP mutations detected in PDS cases

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

       Cohort 1 Cohort 2 Cohort 1 and 2 gnomAD
v2.1.1
  
       IA PDS IA Normals NY EEI PDS MEE PDS MEE Controls Australian PDS Australian Controls Total Cases Total Controls Non-Finnish European African and African American South Asian   
Mutations detected n = 198 n = 359 n = 88 n = 150 N = 1500 n = 177 n = 145 n = 613 N = 2004 n > 55,000 n > 24,000 N > 15,000   
SNP ID MRAP Mutation SIFT PolyPhen Blosum62 Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Instances Genotype frequency Genotype frequency Genotype frequency Genotype frequency   
rs80358231 NM_178817.4:c.3G > A p.Met1? Deleterious Possibly damaging NA 1 0.51% 0 0% 0 0% 0 0% 0 0% 0 0% 0 0% 1 0.16% 0 0% 0.019% 0.016% 0%   
rs138040820 NM_178817.4:c.18C > A p.Asn6Lys Deleterious Probably damaging 0 2 1.0% 0 0% 0 0% 0 0% 2 0.13% 0 0% 0 0% 2 0.33% 2 0.10% 0.10% 0.040% 0%   
rs781703497 NM_178817.4:c.190G > A p.Ala64Thr Deleterious Benign 0 0 0% 0 0% 0 0% 1 0.67% 0 0% 0 0% 0 0% 1 0.16% 0 0% 0.0031% 0.0080% 0.059%   
rs200277269 NM_178817.4:c.247G > A pGly83Ser Tolerated Benign −1 0 0% 0 0% 0 0% 0 0% 1 0.067% 0 0% 0 0% 0 0% 1 0.050% 0.0078% 0.21% 0.0065%   
NA NM_206898.1:c.301G > A p.Ala101Thr Tolerated Benign 0 1 0.51% 0 0% 0 0% 0 0% 0 0% 0 0% 0 0% 1 0.16% 0 0% 0% 0% 0%   
rs139379303 NM_178817.4:c.322G > A p.Ala108Thr Tolerated Benign 0 0 0% 0 0% 0 0% 0 0% 3 0.20% 0 0% 0 0% 0 0% 3 0.15% 0.011% 0% 0%   
rs200921993 NM_178817.4:c.359A > C p.Asp120Ala Tolerated Benign −2 0 0% 0 0% 0 0% 0 0% 12 0.80% 0 0% 0 0% 0 0% 12 0.60% 0.78% 1.1% 0.019%   
rs200448756 NM_178817.4:c.446A > G p.Asn149Ser Tolerated Benign 1 0 0% 0 0% 0 0% 0 0% 0 0% 0 0% 1 0.69% 0 0% 1 0.050% 0.0079% 0.0081% 0%   
rs142897309 NM_178817.4:c.508 T > A p.Leu170Met Deleterious Possibly damaging 2 0 0% 0 0% 0 0% 0 0% 2 0.13% 0 0% 0 0% 0 0% 2 0.10% 0.011% 0.57% 0%   
Total       4 2.0% 0 0% 0 3.4% 1 0.67% 20 1.3% 0 0% 1 0.69% 5 0.82% 21 1.0%      
Fisher’s Exact Test      p = 0.016 NA p = 0.71 p = 0.45 NA      
Cochran-Mantel-Haenszel       p = 0.49 p = 0.71      
Mutations detected but excluded due to prevalence in control populations (> 2.5%)              
rs75858661 NM_178817.4:c.148G > A p.Val50Met Deleterious Probably damaging 1 0 0% 0 0% 3 3.4% 1 0.67% 3 0.20% 1 0.57% 0 0% 5 0.82% 3 0.15% 0.029% 8.0% 0.020%   
rs79126334 NM_178817.4:c.234C > G p.Cys78Trp Deleterious Probably damaging −2 0 0% 0 0% 0 0% 2 1.3% 6 0.40% 0 0% 0 0% 2 0.33% 6 0.30% 0.017% 11% 0.0065%   
rs115917390 NM_206898.1:c.257G > T p.Arg86Leu Tolerated Benign −2 0 0% 0 0% 0 0% 1 0.67% 4 0.27% 0 0% 0 0% 1 0.16% 4 0.20% 0.017% 5.6% 0.0065%   
rs140113354 NM_206898.1:c.302C > T p.Ala101Val Tolerated Benign 0 3 1.5% 0 0% 0 0% 0 0% 14 0.93% 0 0% 0 0% 3 0.49% 14 0.70% 0.51% 0.04% 3.7%   
rs114530014 NM_178817.4:c.389C > T p.Thr130Ile Deleterious Benign −1 0 0% 0 0% 0 0% 0 0% 10 0.67% 1 0.57% 0 0% 1 0.16% 10 0.50% 0.022% 9.8% 0%   
  1. These variants in the bottom section were detected at a frequency > 2.5% in control populations of Non-Finnish European, African, or South Asian ancestry (gnomAD database) and were excluded from further analysis. Abbreviations in the table are: Iowa (IA), Massachusetts Eye and Ear (MEE), New York Eye and Ear Infirmary (NYEEI)