In humans, heterozygous missense mutations in the NRL gene are associated with dominant retinitis pigmentosa phenotypes15, 16, 17, 18, 19; gain‐of‐function mutations (at codons 49, 50, 51, 56 in the NRL transactivation domain) lead to reduced NRL phosphorylation and enhanced activation of the rhodopsin promoter.20 The gene discussed is NRL; the disease is retinitis pigmentosa.