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 |
::: |