Variant information


Systematic Name c.317G>A
Protein name p.Arg106Gln
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-not certain
Reference 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

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Classical 372 :::
2 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Classical 921 MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719
3 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1025 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
4 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1026 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
5 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1262 The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865
6 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1263 The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome:Ishii, Takuma, Makita, Yoshio, Ogawa, Atsushi, Amamiya, Satoshi, Yamamoto, Michio, Miyamoto, Akie and Oki, Junichi:Brain and Development: 11738865
7 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1882 :::
8 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 1883 :::
9 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Not Known 2033 :::
10 c.317G>A p.Arg106Gln Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2436 :::
11 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3084 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
12 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3085 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
13 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3086 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.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3418 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
15 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 3525 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
16 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 3631 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
17 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 3632 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.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 4730 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
19 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-not certain 4731 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.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 6759 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
21 c.317G>A p.Arg106Gln missense MBD Mutation associated with disease Female Rett syndrome-classical 6577 :::