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