Defective colour vision associated with a missense mutation in the human green visual pigment gene

Nat Genet. 1992 Jul;1(4):251-6. doi: 10.1038/ng0792-251.


All red/green colour vision defects described so far have been associated with gross rearrangements within the red/green opsin gene array (Xq28). We now describe a male with severe deuteranomaly without such a rearrangement. A substitution of a highly conserved cysteine by arginine at position 203 in the green opsins presumably accounted for his colour vision defect. Surprisingly, this mutation was fairly common (2%) in the population but apparently was not always expressed. In analogy with nonexpression of some 5'green-red hybrid genes in persons with normal colour vision, we suggest that failure of manifestation occurs when the mutant gene is located at a distal (3') position among several green opsin genes. This mutation might also predispose to certain X-linked retinal dystrophies.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Arginine
  • Base Sequence
  • Blotting, Southern
  • Chromosome Mapping
  • Color Perception / genetics*
  • Cysteine
  • DNA / genetics
  • DNA / isolation & purification
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic
  • Protein Structure, Secondary
  • Rod Opsins / chemistry
  • Rod Opsins / genetics*
  • X Chromosome*


  • Oligodeoxyribonucleotides
  • Rod Opsins
  • DNA
  • Arginine
  • Cysteine