Prph2^em1Sal

CRISPR/Cas9 technology generated G to T change at position 584 (c.584G>T) resulting in an arginine to leucine substitution at amino acid 195 (p.R195L). This mutation is localized in helix D, which is in the peripheral area of the interface crevice, the domain involved in PRPH2 oligomerization. This is a variant found in a family with central areolar choroidal dystrophy. (J:342243)