Table 1 of Kloss, Mol Vis 2012; 18:1740-1749.

Table 1. FOXD3 nonsynonymous variants and their distribution in Peters anomaly/aniridia cases and controls.

        Patient alleles Control alleles  
Allele SNP Protein effect Protein region Distribution Frequency Distribution Frequency Fisher’s exact test
c.47C>T rs184767331 p.T16M NH2-terminal 1/232 0.004 0/9121 0.0007 p=0.165
            8/105522    
c.262_273del rs151026788 p.A88_G91del NH2-terminal 1/232 0.004 5/8941 0.006 p=1
            N/A2    
c.286G>T rs2274188 p.V96L NH2-terminal 5/232 0.036 44/8941 0.017 p=0.597
            42/42382    
c.359C>T* Not reported p.P120L* NH2-terminal 1/232 0.004 1/9101 0.0001 p=0.045
            0/89782    
c.517A>C* rs151021417 p.N173H* DNA-binding forkhead domain 2/240 0.008 0/9461 0.000085 p=0.001
            1/107582    
c.818_829dup Not reported p.R273_G276dup COOH-terminal 1/238 0.004 0/9101 0 p=0.207
            N/A2    

1In-house control data; 2EVS data; N/A- not applicable (insertions/deletions are not recorded in EVS); * alleles with statistically significant difference in distribution between cases and controls.

Kloss, Mol Vis 2012; 18:1740-1749. http://www.molvis.org/molvis/v18/a179

©2012 Molecular Vision http://www.molvis.org/molvis/

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