Variant information


Systematic Name c.674C>G
Protein name p.Pro225Arg
Mutation type missense
Domain TRD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection SSCP, direct
Extent Exons 2-4
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial not known
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
2 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
3 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
4 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
5 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
6 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
7 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1634 :Bunyan, D.::
8 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Not certain 1651 :::
9 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease Female Rett syndrome-Classical 2173 :Cardiff, UK::
10 c.674C>G p.Pro225Arg Missense TRD Mutation associated with disease 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
11 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
12 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
13 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
14 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
15 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
16 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
17 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
18 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
19 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease 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
20 c.674C>G p.Pro225Arg missense TRD Mutation associated with disease Female Rett syndrome-classical 6585 :::