Please choose the gene and type of search required from the list below. Currently graphical displays of variants are available for MECP2 variants only.
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). 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.
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.
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).
You may browse or search for CDKL5 mutation and polymorphism data using the various links below. The CDKL5 database can be queried by one of two formats: variant or proband. The 'proband' style search is comparable with the existing MECP2 RettBASE search functions, and includes basic information (such as phenotype, familial/control screening results, X-inactivation results, etc). The 'variant' search allows users to view only the information pertaining to the variant, and may be useful for those interested in the pathogenicity classification or functional effects of a particular variant.
You may browse or search for FOXG1 mutation and polymorphism data using the various links below. The FOXG1 database can be queried by one of two formats: variant or proband. The 'proband' style search is comparable with the existing MECP2 RettBASE search functions, and includes basic information (such as phenotype, familial/control screening results). The 'variant' search allows users to view only the information pertaining to the variant, and may be useful for those interested in the pathogenicity classification or functional effects of a particular variant.
Please help us by contributing to the content of RettBASE. We welcome any mutation data on MECP2, CDKL5 or FOXG1. Submission forms can be found on our submissions page.
We thank our previous curators Gladys Ho, Andrew Grimm, as well as Dr Sarah Williamson, Dr Linda Weaving and A/Prof. Bruce Bennetts for their assistance in the curation process.
We thank the Rettsyndrome.org (formerly the International Rett Syndrome Foundation or IRSF) for their generous financial support in the construction and maintenance of this database and website. We also thank the Children's Hospital Westmead for hosting this database and for their technical support.
We would also like to acknowledge the New South Wales Rett Syndrome Association and the Rett Syndrome Australian Research Fund for their generous support of the NSW Rett Syndrome Research Team at the Children's Hospital at Westmead. We are also indebted to our collaborators who have been generous in providing their unpublished data to RettBASE.
The RettBASE database and website were initially designed and constructed by BioLateral. We are very grateful to Professor Charles Scriver for very helpful advice and provision of the PAHdb shell, which was used as the initial template for the RettBASE database.