Variant information
Systematic Name (NM_004992.3:) |
c.674C>G |
---|---|
Protein name (NP_004983) |
p.Pro225Arg |
Alternate systematic Name (NM_001110792.1:) |
c.710C>G |
Alternate Protein name (NP_001104262) |
p.(Pro237Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296605G>C |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Classical | 302 | MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712 | View details |
2 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Classical | 335 | Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 | View details |
3 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Not certain | 1249 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | View details |
4 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Not certain | 1250 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | View details |
5 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Not certain | 1251 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 | View details |
6 | c.674C>G | p.Pro225Arg | Unknown | Rett syndrome-atypical | 1523 | Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation:Yamada, Yasukazu, Miura, Kiyokuni, Kumagai, Toshiyuki, Hayakawa, Chiemi, Miyazaki, Shuji, Matsumoto, Akiko, Kurosawa, Kenji, Nomura, Noriko, Taniguchi, Hiroko, Sonta, Shin-ichi, Yamanaka, Tsutomu, and Wakamatsu, Nobuaki:Human mutation: 11524741 | View details |
7 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Not certain | 1634 | :Bunyan, D.:: | View details |
8 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Not certain | 1651 | ::: | View details |
9 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Classical | 2173 | :Cardiff, UK:: | View details |
10 | c.674C>G | p.Pro225Arg | Female | Not Known | 2489 | Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727 | View details |
11 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-Classical | 2597 | 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 |
12 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-classical | 3000 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |
13 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-not certain | 3138 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
14 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-not certain | 3139 | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 | View details |
15 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-not certain | 3451 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |
16 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-not certain | 3558 | 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.674C>G | p.Pro225Arg | Female | Rett syndrome-not certain | 4746 | 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 |
18 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-classical | 4812 | Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation:Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.:Journal of Intellectual Disability Research: 21954873 | View details |
19 | c.674C>G | p.Pro225Arg | Female | Not Known | 6739 | 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 |
20 | c.674C>G | p.Pro225Arg | Female | Rett syndrome-classical | 6585 | ::: | View details |