Proband information



Proband id 2171
Systematic Name c.455C>G
Protein name p.Pro152Arg
Mutation type Missense
Domain MBD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection Not known
Extent Exons 2-4 (at least)
Source of DNA Blood or skin
Carrier NC
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Not known
Phenotype-class Rett syndrome-Classical
Reference :Cardiff, UK::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Not certain 5 :Bunyan, D.::
2 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
3 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
4 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
5 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
6 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
7 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
8 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
9 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
10 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 362 :::
11 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 419 :::
12 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 426 :::
13 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
14 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
15 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
16 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
17 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
18 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
19 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
20 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
21 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Not Known 1764 :Friez, Michael::
22 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Not Known 1793 :Friez, Michael::
23 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2170 :Cardiff, UK::
24 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2171 :Cardiff, UK::
25 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Atypical 2172 :Cardiff, UK::
26 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease 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
27 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2423 :::
28 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Congenital onset 2461 :::
29 c.455C>G p.Pro152Arg Missense MBD Mutation associated with disease Female Rett syndrome-Classical 2468 :::
30 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
31 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
32 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
33 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
34 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
35 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
36 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
37 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
38 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
39 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
40 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
41 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
42 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
43 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
44 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
45 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
46 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
47 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
48 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
49 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
50 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
51 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
52 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
53 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4438 :Das, S., Dempsey, M. U. Chicago::
54 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4439 :Das, S., Dempsey, M. U. Chicago::
55 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4440 :Das, S., Dempsey, M. U. Chicago::
56 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Not Known 4441 :Das, S., Dempsey, M. U. Chicago::
57 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
58 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
59 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
60 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
61 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
62 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
63 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
64 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease 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
65 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6537 :::
66 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6536 :::
67 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6535 :::
68 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6534 :::
69 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6533 :::
70 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6532 :::
71 c.455C>G p.Pro152Arg missense MBD Mutation associated with disease Female Rett syndrome-classical 6531 :::