RettBASE: IRSF MECP2 Variation Database
We welcome you to the web-based IRSF MECP2 Gene Variation Database (RettBASE). This database has been constructed by merging mutation and polymorphism data from the published literature pertaining to Rett syndrome and related clinical disorders, and by incorporating unpublished mutation and polymorphism data that have been submitted directly to us. RettBASE is updated on a very frequent basis manually by our curators to ensure the validity of the data being sent to us.
A search engine has been constructed allowing you to perform searches of varying complexity, to obtain information relevant to your research or clinical questions.
We invite you to:
|Mutation Databases||General Information|
|Search: Single field||Mutation nomenclature (pdf)|
|Search: Multiple fields||Complex nomenclature (pdf)|
|Table of all mutations||Reference sequences for MECP2, CDKL5 and FOXG1|
|Summary of mutations: by frequency||MECP2 homologues in other species|
|Summary of mutations: by nucleotide||Resources for researches|
|Summary of mutations: by amino acid||Resources for patients & families|
|Mutations in CDKL5 NEW!|
|Mutations in FOXG1 NEW!|
|Deletions not affecting MECP2 or CDKL5 in Rett patients|
|Graph of mutations|
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We are also indebted to our collaborators who have been generous in providing their unpublished data to RettBASE.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 and is maintained by Gladys Ho. We are 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.
| Search Page | Home Page |
MECP2 data is curated by:
Prof. John Christodoulou
The MECP2 database and website are maintained by the Western Sydney Genetics Program.
©2001 Western Sydney Genetics Program