Table 2 of Tian, Mol Vis 2014; 20:1594-1604.

Table 2. BEST1 mutations identified in the 12 families affected by bestrophinopathy

Exon Nucleotide change Amino acid change Predicted effect Novel Hot spot
2 c.11C>T p.T4I missense Yes No
2 c.38G>A p.R13H missense No Yes
2 c.97T>C p.Y33H missense Yes No
4 c.389G>T p.R130L missense Yes No
5 c.488T>G p.M163R missense Yes No
5 c.519delA p.K172Nfs2X frameshift Yes No
5 c.584C>T p.A195V missense No No
6 c.652C>T p.R218C missense No No
7 c.763C>T p.R255W missense No No
7 c.860G>A p.W287* nonsense No No
8 c.872C>T p.A291V missense Yes No
8 c.879G>C p.Q293H missense No Yes
8 c.902A>G p.D301G missense No Yes