Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa

Mol Cell Probes. 1995 Feb;9(1):67-9. doi: 10.1016/s0890-8508(95)91052-2.

Abstract

Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Aspartic Acid*
  • Base Sequence
  • Codon / genetics
  • Female
  • Genes, Dominant
  • Glycine*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymorphism, Genetic
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*

Substances

  • Codon
  • Aspartic Acid
  • Rhodopsin
  • Glycine