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Article

Molecular and cellular impact of a C203R/C198R M-opsin mutation.

Biochimica et biophysica acta. Molecular basis of disease - 1 Aug 2026

Vasudevan Sreelakshmi, Tang Maya, Park Paul S-H

Abstract excerpt

A C203R mutation in M-opsin is a cause of blue cone monochromacy (BCM) in human patients. The equivalent mutation in murine M-opsin is C198R since human M-opsin has an extra 5 amino acid residues in the amino terminal region that are not present in murine M-opsin. The mechanism by which the C203R/C198R mutation causes BCM is unclear, and the function and dysfunction of cone opsins in general are understudied...

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Identifiers

PMID: 41941983
DOI: 10.1016/j.bbadis.2026.168254
PMCID: PMC13159041

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