Table 1.

Novel MeCP2 mutations and polymorphisms

MutationAmino acidRecurrenceRegion
* Mutations identified in one patient.
G298TD97Y1MBD
G398AR133H1MBD
A914GK305R1TRD
C730TQ244X1TRD
704(insG)Frameshift1TRD
747(insC)Frameshift1TRD
808(delC)Frameshift1TRD
855(del4)Frameshift1TRD
1011(del191)Frameshift1C-terminus
1038(del82)*Frameshift1C-terminus
1169(del171)*In frame1C-terminus
1169(dup137)*Frameshift1C-terminus
1154(del32)Frameshift1C-terminus
1156(del41)Frameshift1C-terminus
1160(del26)Frameshift3C-terminus
1163(del43)Frameshift1C-terminus
1454(del4)Frameshift1C-terminus
Polymorphism
C426TNo change1MBD
C590TT197M1Between MBD/TRD
C834TNo change1TRD
G1968CN/A13′ UTR