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