Proband information


Proband id 1574
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
Evidence of Pathogenicity
Detection dhplc
Extent Exons 2-4
Source of DNA Blood
Carrier Y
Carrier result Affected brother does not have variation, unaffected mother has variation
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Familial
Phenotype-class Not Rett synd.-autism only
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.1315G>A p.Ala439Thr Male Affected brother does not have variation, unaffected mother has variation 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 Female Relative of proband 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 Female Not Known 2145 :Cardiff, UK::
4 c.1315G>A p.Ala439Thr Female Not Known 2146 :Cardiff, UK::
5 c.1315G>A p.Ala439Thr Male Not Rett synd. 2165 :Cardiff, UK::
6 c.1315G>A p.Ala439Thr Male Not Rett synd. 2166 :Cardiff, UK::
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