Variant information


Systematic Name
(NM_004992.3:)
c.1164_1207del44
Protein name
(NP_004983)
p.Pro389*
Alternate systematic Name
(NM_001110792.1:)
c.1200_1243del44
Alternate Protein name
(NP_001104262)
p.(Pro401*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296072_153296115del44
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.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 14 :Bunyan, D.:: View details
2 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 22 :Bunyan, D.:: View details
3 c.1164_1207del44 p.Pro389* Female Rett syndrome-Preserved speech 349 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
4 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 1121 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
5 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 1594 :Bunyan, D.:: View details
6 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 1611 :Bunyan, D.:: View details
7 c.1164_1207del44 p.Pro389* Female Not Known 1693 :Friez, Michael:: View details
8 c.1164_1207del44 p.Pro389* Female Rett syndrome-Not certain 1848 :Bunyan, D.:: View details
9 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2184 :Cardiff, UK:: View details
10 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2185 :Cardiff, UK:: View details
11 c.1164_1207del44 p.Pro389* Female Rett syndrome-Atypical 2186 :Cardiff, UK:: View details
12 c.1164_1207del44 p.Pro389* Female Rett syndrome-Atypical 2187 :Cardiff, UK:: View details
13 c.1164_1207del44 p.Pro389* Female Rett syndrome-Atypical 2188 :Cardiff, UK:: View details
14 c.1164_1207del44 p.Pro389* Female Rett syndrome-Atypical 2189 :Cardiff, UK:: View details
15 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2190 :Cardiff, UK:: View details
16 c.1164_1207del44 p.Pro389* Female Not Known 2487 Very mild cases of Rett syndrome with skewed X inactivation:Peter Huppke, Esther M Maier, Andreas Warnke, Cornelia Brendel, Franco Laccone and Jutta Gärtner:Journal of Medical Genetics: 16690727 View details
17 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2627 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
18 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2628 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
19 c.1164_1207del44 p.Pro389* Female Rett syndrome-Classical 2629 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.1164_1207del44 p.Pro389* Male Rett syndrome-male variant 2755 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334 View details
21 c.1164_1207del44 p.Pro389* Female Rett syndrome-preserved speech 2884 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
22 c.1164_1207del44 p.Pro389* Female Rett syndrome-forme fruste 2885 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
23 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 3011 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 View details
24 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 3065 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
25 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 3066 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
26 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 3315 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
27 c.1164_1207del44 p.Pro389* Female Not Rett synd. 3982 MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother:Dayer, A.G., Bottani, A., Bouchardy, I., Fluss, J., Antonarakis, S.E., Haenggeli, C.-A., Morris, M.A.:Brain & Development: 16844334 View details
28 c.1164_1207del44 p.Pro389* Female Not Rett synd. 5300 Brief report: MECP2 mutations in people without Rett syndrome:Suter, B., Treadwell-Deering, D., Zoghbi, H.Y., Glaze, D.G., Neul, J.L.:J Autism Dev Disord: 23921973 View details
29 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 4308 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 View details
30 c.1164_1207del44 p.Pro389* Female Rett syndrome-not certain 4316 Spectrum of MECP2 mutations in New Zealand Rett syndrome patients:Raizis, A.M., Saleem, M., MacKay, R., George, P.M.:New Zealand Medical Journal: 19652677 View details
31 c.1164_1207del44 p.Pro389* Male Not Known 4417 :Das, S., Dempsey, M. U. Chicago:: View details
32 c.1164_1207del44 p.Pro389* Female Not Known 4418 :Das, S., Dempsey, M. U. Chicago:: View details
33 c.1164_1207del44 p.Pro389* Female Not Rett synd. 4790 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 View details
34 c.1164_1207del44 p.Pro389* Female Not Rett synd. 4791 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 View details
35 c.1164_1207del44 p.Pro389* Male Not Rett synd. 4792 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 View details
36 c.1164_1207del44 p.Pro389* Male Not Rett synd. 4793 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 View details
37 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 4794 Variable phenotypic expression of a MECP2 mutation in a family:Augenstein, K., Lane, J.B., Horton, A., Schanen, C., Percy, A.K.:J Neurodevelop Disorder: 20151026 View details
38 c.1164_1207del44 p.Pro389* Female Not Rett synd. 4856 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
39 c.1164_1207del44 p.Proro389* Female Rett syndrome-preserved speech 6758 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
40 c.1164_1207del44 p.Proro389* Female Rett syndrome-classical 6757 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
41 c.1164_1207del44 p.Proro389* Female Rett syndrome-atypical 6756 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
42 c.1164_1207del44 p.Proro389* Female Not Known 6755 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.1164_1207del44 p.Pro389* Male Not Rett synd. 6673 ::: View details
44 c.1164_1207del44 p.Pro389* Female Not Rett synd. 6674 ::: View details
45 c.1164_1207del44 p.Pro389* Female Rett syndrome-forme fruste 6664 ::: View details
46 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 6663 ::: View details
47 c.1164_1207del44 p.Pro389* Female Not Rett synd. 6662 ::: View details
48 c.1164_1207del44 p.Pro389* Female Rett syndrome-classical 6661 ::: View details