Variant information


Systematic Name c.401C>G
Protein name p.Ser134Cys
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection dhplc
Extent Exons 2-4
Number of chromosomes checked 80 chromosomes tested and not found in 0 chromosomes
Carrier status checked Yes
Carrier result Mother is not carrier, Father is not carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Atypical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
2 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
3 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 361 :::
4 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
5 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
6 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1631 :Bunyan, D.::
7 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
8 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
9 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease 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
10 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Not Known 1805 :Friez, Michael::
11 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2333 :Cardiff, UK::
12 c.401C>G p.Ser134Cys Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2334 :Cardiff, UK::
13 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease 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
14 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease 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
15 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease 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
16 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease 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
17 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease 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
18 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Not Known 4437 :Das, S., Dempsey, M. U. Chicago::
19 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease 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
20 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6596 :::
21 c.401C>G p.Ser134Cys missense MBD Mutation associated with disease Female Rett syndrome-classical 6595 :::