Table 3 of Zhou, Mol Vis 2011; 17:621-626.

Table 3. Variations found in GJA3, GJA8, LIM2 and PolyPhen results of the nonsynonymous mutations.

Gene Nucleotide notation Protein notation Polyphen score Polyphen prediction
GJA3 c.-39C>G - - -
  c.415G>A p.V139M 0.058 Benign
GJA8 c.823G>A p. V275I 0.252 Benign
LIM2 c.57G>A synonymous - -
  c.67A>C p.M23L 1.595 Possibly damaging

GJA3, gap junction protein α3; GJA8, gap junction protein α8; LIM2, lens intrinsic membrane protein 2.

Zhou, Mol Vis 2011; 17:621-626. http://www.molvis.org/molvis/v17/a71

©2011 Molecular Vision http://www.molvis.org/molvis/

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