Variant information
Systematic Name (NM_004992.3:) |
c.1330G>A |
---|---|
Protein name (NP_004983) |
p.Ala444Thr |
Alternate systematic Name (NM_001110792.1:) |
c.1366G>A |
Alternate Protein name (NP_001104262) |
p.(Ala456Thr) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295949C>T |
Mutation type | Missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1330G>A | p.Ala444Thr | Female | Rett syndrome-Not certain | 1136 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
2 | c.1330G>A | p.Ala444Thr | Female | Rett syndrome-Not certain | 1137 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
3 | c.1330G>A | p.Ala444Thr | Male | Not Rett synd. | 1548 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
4 | c.1330G>A | p.Ala444Thr | Male | Not Rett synd. | 1549 | Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898 | View details |
5 | c.1330G>A | p.Ala444Thr | Female | Rett syndrome-Atypical | 2164 | :Cardiff, UK:: | View details |
6 | c.1330G>A | p.Ala444Thr | Male | Not Rett synd. | 2671 | MECP2 coding sequence and 3'UTR variation in 182 unrelated autistic patients:Coutinho, A.M., Oliveira, G., Katz, C., Feng, J., Yan, J., Yang, C., Marques, C., Ataíde, A., Miguel, T.S., Borges, L., Almeida, J., Correia,C., Currais, A., Bento, C., Mota-Vieria, L., Temudo, T., Santos, M., Maciel, P., Sommer, S.S., Vicente, A.M.:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics: 17427193 | View details |
7 | c.1330G>A | p.Ala444Thr | Female | Not Rett synd. | 2778 | 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 |
8 | c.1330G>A | p.Ala444Thr | Female | Rett syndrome-not certain | 4074 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 | View details |
9 | c.1330G>A | p.Ala444Thr | Female | Not Rett synd. | 4075 | Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860 | View details |
10 | c.1330G>A | Female | Not Rett synd. | 6871 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | View details | |
11 | c.1330G>A | Female | Not Rett synd. | 6870 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | View details | |
12 | c.1330G>A | Female | Not Rett synd. | 6869 | MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes:novel mutations,genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561 | View details | |
13 | c.1330G>A | p.Ala444Thr | Female | Not Rett synd. | 6906 | ::: | View details |
14 | c.1330G>A | p.Ala444Thr | Female | Not Known | 6896 | ::: | View details |