Variant information


Systematic Name c.1315G>A
Protein name p.Ala439Thr
Mutation type Missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood or skin
Detection Not known
Extent Exons 2-4 (at least)
Number of chromosomes checked
Carrier status checked Not checked
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Not Known
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1315G>A p.Ala439Thr Missense C-term Unknown Male Not Rett synd. 1574 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
2 c.1315G>A p.Ala439Thr Missense C-term Unknown Female Not Rett synd. 1587 Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770
3 c.1315G>A p.Ala439Thr Missense C-term Unknown Female Not Known 2145 :Cardiff, UK::
4 c.1315G>A p.Ala439Thr Missense C-term Unknown Female Not Known 2146 :Cardiff, UK::
5 c.1315G>A p.Ala439Thr Missense C-term Unknown Male Not Rett synd. 2165 :Cardiff, UK::
6 c.1315G>A p.Ala439Thr Missense C-term Unknown Male Not Rett synd. 2166 :Cardiff, UK::
7 c.1315G>A p.Ala439Thr missense C-term Unknown Female Not Rett synd. 2777 A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963