Variant information
Systematic Name (NM_004992.3:) |
c.455C>G |
---|---|
Protein name (NP_004983) |
p.Pro152Arg |
Alternate systematic Name (NM_001110792.1:) |
c.491C>G |
Alternate Protein name (NP_001104262) |
p.(Pro164Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296824G>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 5 | :Bunyan, D.:: | View details |
2 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 58 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
3 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 59 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
4 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 60 | MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105 | View details |
5 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 107 | Rett syndrome: analysis of MeCP2 and clinical characterization of 31 patients:Huppke, P., Laccone, F., Krämer, N., Engel, W., Hanefeld, F.:Human Molecular Genetics: 10814718 | View details |
6 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 160 | 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 | View details |
7 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 161 | 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 | View details |
8 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 162 | 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 | View details |
9 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 265 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 | View details |
10 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 362 | ::: | View details |
11 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Atypical | 419 | ::: | View details |
12 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 426 | ::: | View details |
13 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Not certain | 1031 | 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 | View details |
14 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 1225 | MECP2 mutation screening in Swedish classical Rett syndrome females:Erlandson, A., Hallberg, B., Hagberg, B., Wahlström, and Martinsson, T.:European Child and Adolescent Psychiatry: 11469283 | View details |
15 | c.455C>G | p.Pro152Arg | Unknown | Rett syndrome-Not certain | 1288 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
16 | c.455C>G | p.Pro152Arg | Unknown | Rett syndrome-Not certain | 1289 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
17 | c.455C>G | p.Pro152Arg | Unknown | Rett syndrome-Not certain | 1290 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
18 | c.455C>G | p.Pro152Arg | Unknown | Rett syndrome-Not certain | 1291 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |
19 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 1396 | DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237 | View details |
20 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 1462 | 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, Hultén, Maj:Journal of Molecular Medicine: 11269512 | View details |
21 | c.455C>G | p.Pro152Arg | Female | Not Known | 1764 | :Friez, Michael:: | View details |
22 | c.455C>G | p.Pro152Arg | Female | Not Known | 1793 | :Friez, Michael:: | View details |
23 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 2170 | :Cardiff, UK:: | View details |
24 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 2171 | :Cardiff, UK:: | View details |
25 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Atypical | 2172 | :Cardiff, UK:: | View details |
26 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Preserved speech | 2407 | Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canós, I., Pineda, M.:Brain and Development: 11738885 | View details |
27 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 2423 | ::: | View details |
28 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Congenital onset | 2461 | ::: | View details |
29 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 2468 | ::: | View details |
30 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 2581 | 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 |
31 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 2871 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | View details |
32 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 2872 | Rett syndrome in adolescent and adult females:Smeets, E., Schollen, E., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.:American Journal of Medical Genetic: 12966523 | View details |
33 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-atypical | 2957 | Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome; a cohort of 171 cases:Kammoun, F., de Roux, N, Boespflug-Tanguy, O., Vallée, L, seng, R., Tardieu, M., Landrieu, P.:J Med Genet: 15173251 | View details |
34 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 2987 | Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 | View details |
35 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3078 | 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 | View details |
36 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3116 | 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 |
37 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3399 | 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 | View details |
38 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3435 | 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 |
39 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3436 | 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 |
40 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3437 | 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 |
41 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3438 | 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 |
42 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3439 | 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 |
43 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3540 | 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 |
44 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 3541 | 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 |
45 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3646 | 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 | View details |
46 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3647 | 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 | View details |
47 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3648 | 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 | View details |
48 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3649 | 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 | View details |
49 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3650 | 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 | View details |
50 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 3651 | 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 | View details |
51 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Atypical | 4246 | Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030 | View details |
52 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-Classical | 4363 | Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 | View details |
53 | c.455C>G | p.Pro152Arg | Female | Not Known | 4438 | :Das, S., Dempsey, M. U. Chicago:: | View details |
54 | c.455C>G | p.Pro152Arg | Female | Not Known | 4439 | :Das, S., Dempsey, M. U. Chicago:: | View details |
55 | c.455C>G | p.Pro152Arg | Female | Not Known | 4440 | :Das, S., Dempsey, M. U. Chicago:: | View details |
56 | c.455C>G | p.Pro152Arg | Female | Not Known | 4441 | :Das, S., Dempsey, M. U. Chicago:: | View details |
57 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-not certain | 4739 | 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 |
58 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 4848 | MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064 | View details |
59 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-atypical | 4867 | Molecular diagnostic dilemmas in Rett syndrome:Zvereff, V., Carpenter, L., Patton, D., Cabral, H., Rita, D., Wilson, A., Anyane-Yeboa, K., White, L., Friedman, K.J.:Brain & Development: 22277191 | View details |
60 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 5067 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |
61 | c.455C>G | p.Pro152Arg | Female | Not Rett synd. | 5124 | MECP2 gene study in a large cohort testing of 240 female patients and 861 healthy controls (519 females and 342 males):Maortua, H., Martinez-Bouzas, C., Garcia-Ribes, A., Martinez, M.-J., Guillen, E., Domingo, M.-R., Calvo, M.-T., Guitart, M., Gabau, E., Botella, M.-P., Gener, B., Rubio, I., Lopez-Ariztegui, M.-A., Tejada, M.-I.:J Mol Diagn: 23810759 | View details |
62 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-preserved speech | 5234 | Atypical features in MECP2 P152R-associated Rett syndrome:Sheen, V., Valencia, I.M., Torres, A.R.:Pediatric Neurology: 23859859 | View details |
63 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6731 | 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 |
64 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6730 | 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 |
65 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6537 | ::: | View details |
66 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6536 | ::: | View details |
67 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6535 | ::: | View details |
68 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6534 | ::: | View details |
69 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6533 | ::: | View details |
70 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6532 | ::: | View details |
71 | c.455C>G | p.Pro152Arg | Female | Rett syndrome-classical | 6531 | ::: | View details |