Proband information
Proband id | 2777 |
---|---|
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 | direct |
Extent | exons2-4 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-mental retardation |
Reference | 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 |
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 |