eOPA1: an online database for OPA1 mutations

Hum Mutat. 2005 May;25(5):423-8. doi: 10.1002/humu.20161.


Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by moderate to severe loss of visual acuity with an insidious onset in early childhood, blue-yellow dyschromatopsia, and central scotoma. An optic atrophy gene, called OPA1, has been identified in most cases of the disease. A total of 83 OPA1 mutations, often family-specific, have been reported so far, and the observations support the hypothesis that haploinsufficiency and the functional loss of a single allele may lead to ADOA. We have developed a new locus-specific database (LSDB), eOPA1 (http://lbbma.univ-angers.fr/eOPA1/) aimed at collecting published and unpublished sequence variations in OPA1. The database has been designed to incorporate new submissions rapidly and will provide a secured online catalog of OPA1 mutations and nonpathogenic sequence variants (NPSVs). The LSDB should prove useful for molecular diagnosis, large-scale mutation statistics, and the determination of original genotype-phenotype correlations in studies on ADOA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Databases, Nucleic Acid*
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Terminology as Topic


  • GTP Phosphohydrolases
  • OPA1 protein, human

Associated data

  • GDB/118848
  • OMIM/165500
  • OMIM/605290
  • RefSeq/NM_015560
  • RefSeq/NM_130831
  • RefSeq/NM_130832
  • RefSeq/NM_130833
  • RefSeq/NM_130834
  • RefSeq/NM_130835
  • RefSeq/NM_130836
  • RefSeq/NM_130837
  • SWISSPROT/O60313