No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
Reference |
1 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
14 |
:Bunyan, D.:: |
2 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
22 |
:Bunyan, D.:: |
3 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
4 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
5 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1594 |
:Bunyan, D.:: |
6 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1611 |
:Bunyan, D.:: |
7 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Not Known |
1693 |
:Friez, Michael:: |
8 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Not certain |
1848 |
:Bunyan, D.:: |
9 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2184 |
:Cardiff, UK:: |
10 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2185 |
:Cardiff, UK:: |
11 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2186 |
:Cardiff, UK:: |
12 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2187 |
:Cardiff, UK:: |
13 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2188 |
:Cardiff, UK:: |
14 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Atypical |
2189 |
:Cardiff, UK:: |
15 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-Classical |
2190 |
:Cardiff, UK:: |
16 |
c.1164_1207del44 |
p.Pro389* |
Frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
17 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
c-term |
Mutation associated with disease |
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 |
18 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
c-term |
Mutation associated with disease |
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 |
19 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
c-term |
Mutation associated with disease |
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 |
20 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
21 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
22 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
23 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
24 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
25 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
26 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
27 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
28 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
29 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
30 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
31 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Male |
Not Known |
4417 |
:Das, S., Dempsey, M. U. Chicago:: |
32 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Not Known |
4418 |
:Das, S., Dempsey, M. U. Chicago:: |
33 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
34 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
35 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
36 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
37 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
38 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
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 |
39 |
c.1164_1207del44 |
p.Proro389* |
nonsense |
C-term |
Mutation associated with disease |
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 |
40 |
c.1164_1207del44 |
p.Proro389* |
nonsense |
C-term |
Mutation associated with disease |
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 |
41 |
c.1164_1207del44 |
p.Proro389* |
nonsense |
C-term |
Mutation associated with disease |
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 |
42 |
c.1164_1207del44 |
p.Proro389* |
nonsense |
C-term |
Mutation associated with disease |
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 |
43 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Male |
Not Rett synd. |
6673 |
::: |
44 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Not Rett synd. |
6674 |
::: |
45 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-forme fruste |
6664 |
::: |
46 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6663 |
::: |
47 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Not Rett synd. |
6662 |
::: |
48 |
c.1164_1207del44 |
p.Pro389* |
frameshift insertion or deletion |
C-term |
Mutation associated with disease |
Female |
Rett syndrome-classical |
6661 |
::: |