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, in order to enhance our knowledge and understanding of mutations causing Rett syndrome.
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 instructions on our submissions page to contribute mutation data.
Note regarding MECP2 mutation nomenclature: Historically, MECP2 variants were called based on the e2 isoform (i.e. transcript containing exons 1, 2, 3 & 4, with start codon in exon 2)and RettBASE displayed variants predominantly in e2 isoform. RettBASE has since updated the MECP2 database to include variants in e1 isoform (NM_001110792.1). Users can now change the transcript of interest in list of all variants to view variants in each transcript. The variant and proband pages has also been updated to reflect variant nomenclature in both transcripts. For information regarding reference sequence for MECP2, please visit our reference sequence page. Also please see our nomenclature section for general guidelines for mutation nomenclature.
|Table of all entries|
|Graph of all mutations|
|Summary of MECP2 mutations|
|MECP2 mutation stats|
|Reference sequence information|
|Deletions causing Rett syndrome + related disorders|
|Submitting mutations to RettBASE|
|References for MECP2 mutations|