Variant information


Systematic Name c.393C>G
Protein name p.Ala131Ala
Mutation type Silent
Domain MBD
Pathogenicity Silent polymorphism

Proband information


Source of DNA Blood
Detection Direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-Prader-Willi syndrome
Reference MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.393C>G p.Ala131Ala Silent MBD Silent polymorphism Female Rett syndrome-Not certain 1639 :Bunyan, D.::
2 c.393C>G p.Ala131Ala Silent MBD Silent polymorphism Male Not Rett synd. 2496 MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics:Tjitske Kleefstra, Helger G Yntema, Willy M Nillesen, Astrid R Oudakker, Reinier A Mullaart, Niels Geerdink, Hans van Bokhoven, Bert BA de Vries, Erik A Sistermans, Ben CJ Hamel:European Journal of Human Genetics: 14560307
3 c.393C>G p.Ala131Ala silent MBD Silent polymorphism Unknown Not Rett synd. 2664 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193
4 c.393C>G p.Ala131Ala silent MBD Silent polymorphism Unknown Not Rett synd. 3995 MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193