Variant information


Systematic Name
(NM_004992.3:)		 c.1315G>A
Protein name
(NP_004983)		 p.Ala439Thr
Alternate systematic Name
(NM_001110792.1:)		 c.1351G>A
Alternate Protein name
(NP_001104262)		 p.(Ala451Thr)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153295964C>T
Mutation type Missense
Domain C-term
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1315G>A p.Ala439Thr 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 View details
2 c.1315G>A p.Ala439Thr 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 View details
3 c.1315G>A p.Ala439Thr Female Not Known 2145 :Cardiff, UK:: View details
4 c.1315G>A p.Ala439Thr Female Not Known 2146 :Cardiff, UK:: View details
5 c.1315G>A p.Ala439Thr Male Not Rett synd. 2165 :Cardiff, UK:: View details
6 c.1315G>A p.Ala439Thr Male Not Rett synd. 2166 :Cardiff, UK:: View details
7 c.1315G>A p.Ala439Thr 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 View details