Welcome to the RettSyndrome.org (formerly the International Rett Syndrome Foundation, IRSF) MECP2 Variation Database (RettBASE), hosted by the Children's Hospital Westmead. Our goal is to gather and curate mutation data related to Rett syndrome, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn. RettBASE encourages input from researchers, clinicians, families of individuals living with Rett syndrome and the general public, in order to enhance our knowledge and understanding of mutations causing Rett syndrome.
- Mutation databases
- General Information
- How to cite RettBASE
- Submit mutations to RettBASE
- The people behind RettBASE
RettBASE is a freely-available resource for mutation and polymorphism data pertaining to Rett syndrome and other related clinical disorders. Mutation information is collected from published literature and from our collaborators who submit data directly to us. All variant information is manually curated before inclusion in the database. Please see links below on how you can contribute to this database. We also welcome queries regarding mutation nomenclature on any variants listed in our databases or for any unpublished MECP2, CDKL5 or FOXG1 variants.
Due to the growing body of mutation data for CDKL5 and FOXG1, we are in the process of separating these variants from the MECP2 data and building search engines more appropriate for these genes. In concert with the database upgrade, we are gradually changing over the look of this website. During the upgrading process, some pages may no longer be available, including your previous bookmarks. We apologise for any inconvenience caused. Please use the current page or http://mecp2.chw.edu.au/ as your bookmark. We appreciate any feedback or suggestions regarding the new databases, as well as any changes for the existing MECP2 search engine. Please inform us of any bugs/broken links encountered.
Please choose the gene and type of search required from the list below. Currently graphical displays of variants are available for MECP2 variants only. Please note that FOXG1 mutation data are currently incorporated within the MECP2 database until the completion of a FOXG1 database. To view the most up-to-date set of FOXG1 mutation data, please use either forms of the MECP2 search engines and use 'foxg1' (non-case-sensitive) as your search term for nucleotide/amino acid change.
Note regarding nomenclature of MECP2 variants: variants are traditionally called from the e2 isoform (translation starting in exon 2). Unless otherwise specified in the nomenclature, all variants in RettBASE are named according to this convention (reference sequence NM_004992). Nomenclature of mutations in exon 3 and exon 4 will differ by 12 amino acids between the two isoforms (e.g. p.R306C or p.Arg306Cys in isoform e2 is equivalent to p.R318C or p.Arg318Cys in isoform e2). cDNA nomenclature will differ by 36 nucleotides.