Variant information


Systematic Name c.777C>T
Protein name p.Ala259Ala
Mutation type Silent
Domain TRD-NLS
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection Not known
Extent Not known
Number of chromosomes checked
Carrier status checked NA
Carrier result Relative of proband
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Unaffected family member
Reference :Bunyan, D.::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism 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 Silent TRD-NLS Silent polymorphism 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 Silent TRD-NLS Silent polymorphism 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 Silent TRD-NLS Silent polymorphism Female Not Rett synd. 1846 :Bunyan, D.::
5 c.777C>T p.Ala259Ala Silent TRD-NLS Silent polymorphism Female Rett syndrome-Not certain 1894 :::
6 c.777C>T p.Ala259Ala silent TRD-NLS Silent polymorphism 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