Variant information
Systematic Name (NM_004992.3:) |
c.401C>G |
---|---|
Protein name (NP_004983) |
p.Ser134Cys |
Alternate systematic Name (NM_001110792.1:) |
c.437C>G |
Alternate Protein name (NP_001104262) |
p.(Ser146Cys) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296878G>C |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Not certain | 106 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
2 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Classical | 159 | Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome:Obata, K., Matsuishi, T., Yamashita, Y., Fukuda, T., Kuwajima, K., Horiuchi, I., Nagamitsu, S., Iwanaga, R., Kimura, A., Omori, I., Endo, S., Mori, K., Kondo, I.:Journal of Medical Genetics: 10991688 | View details |
3 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Atypical | 361 | ::: | View details |
4 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Classical | 1441 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
5 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Classical | 1460 | Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
6 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Not certain | 1631 | :Bunyan, D.:: | View details |
7 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Atypical | 1669 | Clinical profile of a male with Rett syndrome:Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner:Brain and Development: 16182490 | View details |
8 | c.401C>G | p.Ser134Cys | Female | Not Rett synd. | 1672 | Clinical profile of a male with Rett syndrome:Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner:Brain and Development: 16182490 | View details |
9 | c.401C>G | p.Ser134Cys | Male | Rett syndrome-Male variant | 1673 | Clinical profile of a male with Rett syndrome:Sarojini S. Budden, Heather C. Dorsey, Robert D. Steiner:Brain and Development: 16182490 | View details |
10 | c.401C>G | p.Ser134Cys | Female | Not Known | 1805 | :Friez, Michael:: | View details |
11 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Classical | 2333 | :Cardiff, UK:: | View details |
12 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Classical | 2334 | :Cardiff, UK:: | View details |
13 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-Classical | 2577 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |
14 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-not certain | 3079 | Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation:Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, Cecconi A, Ombroni L, Andreucci E, Sani I, Brusaferri A, Lasagni A, Ricotti G, Giometto B, Nicolao P, Gasparini P, Granatiero M, Giovannucci Uzielli ML:Brain & Development: 11738883 | View details |
15 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-classical | 3397 | Mutation analysis of the methyl-CpG-biding protein 2 gene (MECP2) in Rett patients with preserved speech:Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, Matsuishi T:Brain & Development: 11738864 | View details |
16 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-not certain | 3538 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 | View details |
17 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-classical | 3645 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 | View details |
18 | c.401C>G | p.Ser134Cys | Female | Not Known | 4437 | :Das, S., Dempsey, M. U. Chicago:: | View details |
19 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-not certain | 4738 | Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 | View details |
20 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-classical | 6596 | ::: | View details |
21 | c.401C>G | p.Ser134Cys | Female | Rett syndrome-classical | 6595 | ::: | View details |