However, Chiang et al26 showed that this allele is strongly associated with albinism patients who have only 1 variant in TYR. Berson et al27 showed that the p.(Arg402Gln) variant resulted in a defect in protein folding, which prevents exit from the endoplasmic reticulum thus resulting in an abnormal phenotype. The gene discussed is TYR; the disease is albinism.