Proband information


Proband id 4387
Systematic Name
(NM_004992.3:)		 c.777C>T
Protein name
(NP_004983)		 p.Ala259Ala
Alternate systematic Name
(NM_001110792.1:)		 c.813C>T
Alternate Protein name
(NP_001104262)		 p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296502G>A
Mutation type silent
Domain TRD-NLS
Pathogenicity Silent polymorphism
Evidence of Pathogenicity 100 chromosomes tested and not found in 99 chromosomes
Detection direct
Extent exons 2-4
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Not Rett synd.-normal control
Reference 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

Matching entries in the proband database


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