Table 4 of Chen, Mol Vis 2012; 18:1763-1772.

Table 4. Analysis of missense variants, stratified by Align-GVGD grades and SIFT predictions.

Stratification Cases (%) Controls (%) p-value §
Align-GVGD
Class C0 0 (0) 1 (0.05) 0.45
Class C15 1 (0.04) 0 (0) 1.0
Class C25 2 (0.08) 0 (0) 0.50
Class C35 1 (0.04) 0 (0) 1.0
Class C45 1 (0.04) 1 (0.05) 1.0
Class C55 2 (0.08) 0 (0) 0.50
Class C65 * 10 (0.40) 5 (0.25) 0.44
Classes C0 to C45 5 (0.20) 2 (0.10) 0.47
Classes C55 to C65 * 12 (0.48) 5 (0.25) 0.23
Classes C0 to C65 * 17 (0.69) 7 (0.34) 0.15
p.Ala88Val 12 (0.48) 19 (0.93) 0.073
Non-carrier 2452 † 2007 ‡ ref
SIFT
Affect protein function * 12 (0.48) 5 (0.25) 0.23
Tolerated 5 (0.20) 2 (0.10) 0.47
Non-carrier 2452 † 2007 ‡ ref

* The most common variant p.Ala88Val was not included. † Including patients with POAG and PACG. ‡ Excluding the carrier with the nonsense variant p.Ser29Stop. § p-values were estimated with Fisher’s exact test.

Chen, Mol Vis 2012; 18:1763-1772. http://www.molvis.org/molvis/v18/a182

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

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