Proband information
Proband id | 5190 |
---|---|
Systematic Name (NM_004992.3:) |
c.683C>G |
Protein name (NP_004983) |
p.Thr228Ser |
Alternate systematic Name (NM_001110792.1:) |
c.719C>G |
Alternate Protein name (NP_001104262) |
p.(Thr240Ser) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296596G>C |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | 1380 chromosomes tested and not found in 1379 chromosomes |
Detection | CSGE |
Extent | exons 3-4 |
Source of DNA | not stated |
Carrier | N |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | sporadic |
Phenotype-class | Not Rett synd.-normal control |
Reference | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.683C>G | p.Thr228Ser | Female | Rett syndrome-Not certain | 1632 | :Bunyan, D.:: | |
2 | c.683C>G | p.Thr228Ser | Male | Not Rett synd. | 2752 | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 | |
3 | c.683C>G | p.Thr228Ser | Male | mother carrier | Not Rett synd. | 3032 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 |
4 | c.683C>G | p.Thr228Ser | Female | Not Rett synd. | 4057 | Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 | |
5 | c.683C>G | p.Thr228Ser | Unknown | Not Rett synd. | 5190 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | |
6 | c.683C>G | Female | Rett syndrome-classical | 6857 | 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 | ||
7 | c.683C>G | Female | Not Rett synd. | 6856 | 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 |