No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.1315G>A |
p.Ala439Thr |
Male |
Affected brother does not have variation, unaffected mother has variation |
Not Rett synd. |
1574 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
2 |
c.1315G>A |
p.Ala439Thr |
Female |
Relative of proband |
Not Rett synd. |
1587 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
3 |
c.1315G>A |
p.Ala439Thr |
Female |
|
Not Known |
2145 |
:Cardiff, UK:: |
4 |
c.1315G>A |
p.Ala439Thr |
Female |
|
Not Known |
2146 |
:Cardiff, UK:: |
5 |
c.1315G>A |
p.Ala439Thr |
Male |
|
Not Rett synd. |
2165 |
:Cardiff, UK:: |
6 |
c.1315G>A |
p.Ala439Thr |
Male |
|
Not Rett synd. |
2166 |
:Cardiff, UK:: |
7 |
c.1315G>A |
p.Ala439Thr |
Female |
|
Not Rett synd. |
2777 |
A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 |