Gain-of-function variants at amino acid positions 49, 50, 51, and 96 have been shown to reduce NRL phosphorylation and/or increase rhodopsin promoter activation, leading to autosomal dominant retinitis pigmentosa (adRP, OMIM #613750) [17,18,19,20]. The gene discussed is NRL; the disease is autosomal dominant retinitis pigmentosa.