Variant information


Systematic Name
(NM_004992.3:)
c.1157_1197del41
Protein name
(NP_004983)
p.Leu386fs
Alternate systematic Name
(NM_001110792.1:)
c.1193_1233del41
Alternate Protein name
(NP_001104262)
p.(Leu398Hisfs*5)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296082_153296122del41
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Not certain 39 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
2 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Preserved speech 347 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091 View details
3 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 482 ::: View details
4 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Preserved speech 1180 Preserved speech variants of the Rett syndrome: molecular and clinical analysis:Zappella, Michele, Meloni, Ilaria, Longo, Ilaria, Hayek, Giuseppe and Renieri, Alessandra:American Journal of Human Genetics: 11746022 View details
5 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 1206 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome:Chae, Jong Hee, Hwang, Yong, Seung and Kim, Ki Joong:Journal of Child Neurology: 11913567 View details
6 c.1157_1197del41 p.Leu386fs Unknown Rett syndrome-Not certain 1363 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
7 c.1157_1197del41 p.Leu386fs Unknown Rett syndrome-Not certain 1364 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
8 c.1157_1197del41 p.Leu386fs Unknown Rett syndrome-Not certain 1365 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
9 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Not certain 1379 Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome:Lam, Ching-Wan, Yeung, Wai-Lan, Ko, Chung-Hung, Poon, Priscilla M K, Tong, Sui-Fan, Chan, Kwok-Yin, Lo, Ivan F M, Chan, Lisa Y S, Hui, Joannie, Wong, Virginia, Pang, Chi-Pui, Lo, Y M Dennis, Fok, Tai-Fai:Journal of Medical Genetics: 11106359 View details
10 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 1428 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
11 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 1455 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
12 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Not certain 1606 :Bunyan, D.:: View details
13 c.1157_1197del41 p.Leu386fs Female Not Known 1741 :Friez, Michael:: View details
14 c.1157_1197del41 p.Leu386fs Female Not Known 1768 :Friez, Michael:: View details
15 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Not certain 1834 :Bunyan, D.:: View details
16 c.1157_1197del41 p.Leu386fs Female Not Known 2014 ::: View details
17 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 2113 :Cardiff, UK:: View details
18 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 2114 :Cardiff, UK:: View details
19 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 2624 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
20 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 2770 A new cohort of MECP2 mutation screening in unexplained mental retardation:Donzel-Javouhey, A., Thauvin-Robinet, C., Cusin, V., Madinier, N., Manceau, E., Dipanda, D., Dulieu, V., Mugneret, F., Huet, F., Teyssier, J.-R., Faivre, L.:American Journal of Medical Genetics Part A: 16763963 View details
21 c.1157_1197del41 p.Leu386fs Female Rett syndrome-preserved speech 2862 Mutation analysis of the MECP2 gene in patients with Rett syndrome:Conforti, F.L., Mazzei, R., Magariello, A., Patitucci, A., Gabriele, A.L., Muglia, M., Quattrone, A., Fiumara, A., Barone, R., Pavone, L., Nisticò, R., Mangone, L.:American Journal of Medical Genetics: 12567420 View details
22 c.1157_1197del41 p.Leu386fs Female Not Rett synd. 2910 Identification of MeCP2 mutations in a series of females with autistic disorder:Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M., Pericak-Vance, M.A.:Pediatr Neurol: 12770674 View details
23 c.1157_1197del41 p.Leu386fs Female Rett syndrome-atypical 2971 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
24 c.1157_1197del41 p.Leu386fs Female Rett syndrome-atypical 2972 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
25 c.1157_1197del41 p.Leu386fs Female Rett syndrome-classical 3046 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 View details
26 c.1157_1197del41 p.Leu386fs Female Rett syndrome-classical 3047 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 View details
27 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 3063 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
28 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 3292 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
29 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 3305 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
30 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 3306 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
31 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 3511 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
32 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 3512 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
33 c.1157_1197del41 p.Leu386fs Female Rett syndrome-Classical 4343 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
34 c.1157_1197del41 p.Leu386fs Female Not Known 4412 :Das, S., Dempsey, M. U. Chicago:: View details
35 c.1157_1197del41 p.Leu386fs Female Not Known 4413 :Das, S., Dempsey, M. U. Chicago:: View details
36 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 4710 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
37 c.1157_1197del41 p.Leu386fs Female Not Rett synd. 4770 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details
38 c.1157_1197del41 p.Leu386fs Female Rett syndrome-classical 4771 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details
39 c.1157_1197del41 p.Leu386fs Female Rett syndrome-atypical 4772 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations:Ravn, K., Roende, G., Duno, M., Fuglsang, K., Eiklid, K.L., Tumer, Z., Nielsen, J.B., Skjeldal, O.H.:Orphanet Journal of Rare Diseases: 21878110 View details
40 c.1157_1197del41 p.Leu386fs Female Rett syndrome-not certain 4922 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991 View details
41 c.1157_1197del41 p.Leu386fs Female Not Rett synd. 5135 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
42 c.1157_1197del41 p.Leu386Hisfs*5 Female Rett syndrome-atypical 6753 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
43 c.1157_1197del41 p.Leu386Hisfs*5 Female Rett syndrome-classical 6752 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
44 c.1157_1197del41 p.Leu386fs Female Rett syndrome-forme fruste 6655 ::: View details
45 c.1157_1197del41 p.Leu386fs Female Rett syndrome-classical 6654 ::: View details
46 c.1157_1197del41 p.Leu386fs Female Rett syndrome-forme fruste 6653 ::: View details
47 c.1157_1197del41 p.Leu386fs Female Rett syndrome-classical 6652 ::: View details