Variant information


Systematic Name c.1339G>A
Protein name p.Ala447Thr
Mutation type missense
Domain C-term
Pathogenicity Polymorphism not causing disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked 200 chromosomes tested and not found in 200 chromosomes
Carrier status checked Yes
Carrier result daughter with Rett
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial familial
Phenotype-class Not Rett synd.-unaffected family member
Reference Skewed X chromosome inactiviation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome:Takahashi, S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K:Clin Genet: 18190595

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Female Rett syndrome-not certain 3801 Skewed X chromosome inactiviation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome:Takahashi, S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K:Clin Genet: 18190595
2 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 3802 Skewed X chromosome inactiviation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome:Takahashi, S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K:Clin Genet: 18190595
3 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Female Not Rett synd. 4604 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
4 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Male Not Rett synd. 4605 Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760
5 c.1339G>A p.Ala447Thr missense C-term Polymorphism not causing disease Unknown Not Rett synd. 5224 MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759