Table 3 of Chen, Mol Vis 2012; 18:1763-1772.

Table 3. Distribution of NTF4 variants in different study populations.

      European [14] American [16] Indian [17] Chinese [15] and this study
Variant Align- GVGD SIFT POAG Control POAG Control POAG PACG Control POAG Control
p.Cys7Tyr Class C65 APF 1 0 - - - - - - -
p.Ser29Stop - - - - 0 1 - - - - -
p.Glu84Lys Class C55 Tolerated 1 0 - - - - - - -
p.Ala88Val Class C65 APF 5 0 1 5 3 3 14 - -
p.Ser89Asn Class C45 APF - - 1 1 - - - - -
p.Arg90His Class C25 Tolerated 1 0 - - - - - - -
p.Arg90Cys Class C65 APF - - 0 1 - - - - -
p.Leu113Ser Class C65 APF - - - - - - - 1 † 0
p.Arg114Gly Class C65 Tolerated - - 0 1 - - - - -
p.Arg133His Class C25 APF - - 1 0 - - - - -
p.Arg140Cys Class C65 APF - - 0 1 - - - - -
p.Pro151Pro - - - - - - 1 * 0 0 3 *, ‡ 1 *, ‡
p.Gly157Ala Class C55 Tolerated - - - - - - - 1 ‡ 0
p.Ala182Val Class C65 Tolerated - - - - - - - 1 ‡ 0
p.Asp196Asp - - 0 1 * - - - - - - -
p.Arg206Trp Class C65 APF 5 0 1 2 - - - - -
p.Arg206Gln Class C35 APF 1 0 - - - - - - -
p.Thr207Ile Class C15 Tolerated - - 1 0 - - - - -
p.Thr207Ser Class C0 Tolerated 0 1 - - - - - - -
p.Arg209Gly Class C65 APF 1 0 - - - - - - -
Total - - 15/892 1/895 5/443 12/533 3/141 3/111 14/285 3/894 0/321

* The synonymous variant p.Pro151Pro was not counted in the total frequency. † Variant detected in the study of Vithana et al. [15]. ‡ Variant detected in our study. APF: “affects protein function” predicted by SIFT; PACG: primary angle-closure glaucoma; POAG: primary open-angle glaucoma.

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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