LOVD MECP2 homepage

General information
Gene name methyl CpG binding protein 2 (Rett syndrome)
Gene symbol MECP2
Chromosome Location Xq28
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the MECP2 database
Date of creation April 20, 2010
Last update May 06, 2010
Version MECP2 100506
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000023.10
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 254
Total number of individuals with variant(s) 2
Total number of variants reported 356
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MECP2 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MECP2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MECP2 database
Variants with no known pathogenicity Listing of all MECP2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 6990
Entrez Gene 4204
OMIM - Gene 300005
UniProtKB (SwissProt/TrEMBL) P51608
GeneCards MECP2
GeneTests MECP2
External link #1 RettBASE LSDB, John Christodoulou, Andrew Grimm Children's Hospital, Westmead, Sydney, Australia
External link #2 MECP2 NCBI Variation Viewer, LSDB
External link #3 Mental Retardation database