International Rett Syndrome Foundation

RettBASE: IRSF MECP2 Variation Database

The Children's Hospital at Westmead

Welcome

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data from the published literature pertaining to Rett syndrome and related clinical disorders, and by incorporating unpublished mutation and polymorphism data that have been submitted directly to us.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  
Mutations in FOXG1 Contributors to RettBASE
Deletions not affecting MECP2 or CDKL5 in Rett patients  
References  
Graph of mutations  




Acknowledgements

Initial construction and maintenance of RettBASE could not have been possible without the very generous financial support of the International Rett Syndrome Foundation

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We are also indebted to our collaborators who have been generous in providing their unpublished data to RettBASE.

Additional Acknowledgements

RettBASE is curated by Prof. John Christodoulou and previously by Andrew Grimm, with assistance in the curation process by Sarah Williamson, Linda Weaving and Bruce Bennetts. The website is hosted at the Children's Hospital at Westmead.

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 formerly with Andrew Grimm.
The MECP2 database and website are maintained by the Western Sydney Genetics Program.

2001 Western Sydney Genetics Program


Database last updated: 18 March 2014