Table 3

Mutations of MeCP2 found in this study

Patients No Mutation type Region or domain Nucleotide change3-150 Amino acid change3-151
30DeletionPoly H+poly Pnt1233(del43)Frameshift
573-152 nt1172(del70)
nt1256(del7)
62Poly H+poly Pnt1170(del101)
72nt1194(del69)
86nt1215(del55)Frameshift
Insertionnt1127(ins10)
283-153 MissenseTRD990C→TR306C3-154
293-153
32
64
67
78
91
39MBD390C→TR106W3-154
70
80365C→AD97E
41471C→TR133C3-154
79537T→AF155I
45547C→TT158M3-154
183-160 NonsenseTRD837C→TR255X3-154
42
76
43954C→TR294X
48
55
33CRIR3-164 576C→TR168X3-154
44
52
  • 3-150 Nucleotide number according to GenBank accession No X99686.

  • 3-151 Amino acid number according to Genbank accession No CAA68001.

  • 3-152 The same as above.

  • 3-153 Patients 28 and 29 are a twin pair.

  • 3-154 Same mutation has been reported in ref 10 or ref 28.

  • 3-160 Patient 18 is from a Rett “cluster” family.

  • 3-164 Corepressor interacting region.