While these benign missense variants were distributed quite evenly along the entire usherin protein, the missense mutations associated with USH were highly enriched in the usherin N-terminal LGL, LN, LE1, LE2, and LE4 domains, and the missense and in-frame duplication mutations associated with RP were enriched in the C-terminal FN3-28 (F28) domain, F31 domain, transmembrane domain, and intracellular region (Fig. 1B). This evidence concerns the gene MLPH and retinitis pigmentosa 1.