
Epidermal melanocytes sense solar light via the opsin‐coupled signalling pathway, which is involved in various biological functions, including regulating pigmentation, proliferation, apoptosis, and tumorigenesis. The study examined single‐nucleotide variants of five opsins genes in MM and MN, using next‐generation sequencing. The effects of these pathogenic single‐nucleotide variants (SNVs) on opsin structure and function were further investigated using molecular dynamics (MD) simulations, dynamic cross‐correlation (DCC), and site‐directed mutagenesis. In addition, the impact of each nsSNV was investigated using MD simulations and DCC analysis. Furthermore, the study performed in vitro fluorescence calcium imaging to assess the functional properties of nsSNV proteins using a site‐directed mutagenesis method. The study findings provide new insight into the role of opsin variants in the loss of function.
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