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
Detection
Extent
Number of chromosomes checked
Carrier status checked
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
Reference 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

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 :::