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., Krńmer, 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, HultÚn, 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, HultÚn, 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