No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.777C>T |
p.Ala259Ala |
Unknown |
|
Rett syndrome-Not certain |
1374 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
2 |
c.777C>T |
p.Ala259Ala |
Unknown |
|
Rett syndrome-Not certain |
1375 |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 |
3 |
c.777C>T |
p.Ala259Ala |
Female |
|
Rett syndrome-Classical |
1431 |
DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 |
4 |
c.777C>T |
p.Ala259Ala |
Female |
Relative of proband |
Not Rett synd. |
1846 |
:Bunyan, D.:: |
5 |
c.777C>T |
p.Ala259Ala |
Female |
|
Rett syndrome-Not certain |
1894 |
::: |
6 |
c.777C>T |
p.Ala259Ala |
Female |
|
Not Rett synd. |
4387 |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 |