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 are called based on the e2 isoform (i.e. transcript containing exons 1, 2, 3 & 4, with start codon in exon 2). MECP2 variants in RettBASE are also named according to this convention, except for those directly affecting the e1 isoform (which will include the prefix MECP2_e1). For information regarding reference sequence for MECP2 reference sequences, please visit our reference sequence page. Also please see our nomenclature section for general guidelines for mutation nomenclature. For variants in exons 3 and 4, to convert from e1 nomenclature to e2 nomenclature, subtract 12 from the amino acid (p.) number or 36 from the nucleotide (c.) number. Conversely, to convert from e2 to e1 nomenclature, add 12 to the amino acid number or 36 to the nucleotide number.
We will be gradually transitioning the MECP2-related content to reflect changes made elsewhere on this website, including stricter observance of the nomenclature guidelines by the Human Genome Variation Society, in particular with regards to protein nomenclature. We also recognise that MECP2 variants are generally known by their single letter amino acid names and will adopt a similar format as the CDKL5 database, where both single-letter and three-letter amino acid names are given.
|Table of all entries|
|Graph of all mutations|
|Summary of MECP2 mutations:|
|By amino acid|
|MECP2 variant stats|
|Reference sequence information|
|Deletions causing Rett syndrome + related disorders|
|Submitting mutations to RettBASE|
|References for MECP2 mutations|