Table 2 of Zhou, Mol Vis 2015; 21:213-223.

Table 2. Variations in the NYX gene detected in 4 families with high myopia with or without CSNB.

Position Nucleotide change Amino acid change State Computational prediction
Polyphen Condel Provean SIFT
chrX-41333332 c.626G>C p.Arg209Pro, hemi PrD N D D
chrX-41332827 c.121delG pGlu41Sfs*100, hemi
chrX-41333041 c.335T>C p.Leu112Pro, hemi PrD D D D
chrX-41333235_236 529_530delGCinsAT p.Ala177Thr, hemi PrD D N D

Abbreviations: Hemi: hemizygote; PrD: probably damaging; D: deleterious; N: neutral.

Zhou, Mol Vis 2015; 21:213-223. http://www.molvis.org/molvis/v21/213

©2015 Molecular Vision http://www.molvis.org/molvis/

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