Table 2.

Recurring MeCP2 mutations

MutationAmino acidRecurrenceRegionReference
* MeCP2 genomic DNA, numbering according to Gen Bank accession number AF031078.
C316TR106W7MBD8
C397TR133C2MBD8
C455GP152R3MBD16
C473TT158M12MBD8
C916TR306C6TRD14
C965TP322L1C-terminus19
C502TR168X6Between MBD/TRD14
C763TR255X7TRD8
C808TR270X8TRD16
C880TR294X2TRD17
AG→GG (A9963G*)N/A1Exon 4 splice acceptor siteThis report, other splicing mt 17,19