No: |
Systematic Name |
Protein name |
Gender |
Carrier result |
Phenotype |
Proband id |
Reference |
1 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-Not certain |
5 |
:Bunyan, D.:: |
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 |
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 |
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 |
5 |
c.455C>G |
p.Pro152Arg |
Female |
Variation not found in parents |
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 |
Female |
Variation not found in parents |
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 |
Female |
Variation not found in parents |
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 |
Female |
Variation not found in parents |
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 |
Female |
Neither parent is carrier |
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 |
Female |
Mother is not carrier, Father is not carrier |
Rett syndrome-Classical |
362 |
::: |
11 |
c.455C>G |
p.Pro152Arg |
Female |
Mother is not carrier |
Rett syndrome-Atypical |
419 |
::: |
12 |
c.455C>G |
p.Pro152Arg |
Female |
Mother is not carrier |
Rett syndrome-Classical |
426 |
::: |
13 |
c.455C>G |
p.Pro152Arg |
Female |
Unaffected mother is not carrier, unborn sibling is not carrier |
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 |
Female |
Neither parent has variation |
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 |
Unknown |
Mutation not carried by parents |
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 |
Unknown |
Mutation not carried by parents |
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 |
Unknown |
Mutation not carried by parents |
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 |
Unknown |
Mutation not carried by parents |
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 |
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 |
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 |
Female |
|
Not Known |
1764 |
:Friez, Michael:: |
22 |
c.455C>G |
p.Pro152Arg |
Female |
|
Not Known |
1793 |
:Friez, Michael:: |
23 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-Classical |
2170 |
:Cardiff, UK:: |
24 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-Classical |
2171 |
:Cardiff, UK:: |
25 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-Atypical |
2172 |
:Cardiff, UK:: |
26 |
c.455C>G |
p.Pro152Arg |
Female |
Researcher claims neither parent has variation |
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 |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2423 |
::: |
28 |
c.455C>G |
p.Pro152Arg |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Congenital onset |
2461 |
::: |
29 |
c.455C>G |
p.Pro152Arg |
Female |
Researcher claims neither parent has variation |
Rett syndrome-Classical |
2468 |
::: |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
43 |
c.455C>G |
p.Pro152Arg |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
Female |
de novo |
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 |
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 |
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 |
Female |
|
Not Known |
4438 |
:Das, S., Dempsey, M. U. Chicago:: |
54 |
c.455C>G |
p.Pro152Arg |
Female |
|
Not Known |
4439 |
:Das, S., Dempsey, M. U. Chicago:: |
55 |
c.455C>G |
p.Pro152Arg |
Female |
|
Not Known |
4440 |
:Das, S., Dempsey, M. U. Chicago:: |
56 |
c.455C>G |
p.Pro152Arg |
Female |
|
Not Known |
4441 |
:Das, S., Dempsey, M. U. Chicago:: |
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 |
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 |
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 |
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 |
61 |
c.455C>G |
p.Pro152Arg |
Female |
de novo |
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 |
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 |
Female |
Mother,Father-Negative |
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 |
Female |
Mother,Father-Negative |
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 |
Female |
|
Rett syndrome-classical |
6537 |
::: |
66 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-classical |
6536 |
::: |
67 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-classical |
6535 |
::: |
68 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-classical |
6534 |
::: |
69 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-classical |
6533 |
::: |
70 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-classical |
6532 |
::: |
71 |
c.455C>G |
p.Pro152Arg |
Female |
|
Rett syndrome-classical |
6531 |
::: |