No: |
Systematic Name |
Protein name |
Mutation type |
Domain |
Pathogenicity |
Gender |
Phenotype |
Proband id |
Reference |
1 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
209 |
MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
2 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
210 |
MECP2 mutation in male patients with non-specific X-linked mental retardation:Orrico, Alfredo, Lam, Ching-Wan, Galli, Lucia, Dotti, Maria Teresa, Hayek, Giuseppe, Tong, Sui-Fan, Poon, Priscilla M.K., Zappella, Michele, Federico, Antonio, Sorrentino, Vincenzo:FEBS letters: 11007980 |
3 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Atypical |
431 |
::: |
4 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Male |
Not Rett synd. |
432 |
::: |
5 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Unknown |
Rett syndrome-Not certain |
1006 |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 |
6 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Unknown |
Rett syndrome-Not certain |
1005 |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 |
7 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Unknown |
Rett syndrome-Not certain |
1004 |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 |
8 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Unknown |
Rett syndrome-Not certain |
1003 |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location:Cheadle, Jeremy P., Gill, Harinder, Fleming, Nick, Maynard, Julie, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David N., Lynch, Sally, Thomas, Nick, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian R. and Clarke, Angus:Human Molecular Genetics: 10767337 |
9 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Classical |
952 |
MECP2 mutations account for most cases of typical forms of Rett syndrome:Bienvenu, Thierry, Carrié, Alain, de Roux, Nicolas, Vinet, Marie-Claude, Jonveaux, Philippe, Couvert, Philippe, Villard, Laurent, Arzimanoglou, Alexis, Beldjord, Cherif, Fontes, Michel, Tardieu, Marc and Chelly, Jamel:Human Molecular Genetics: 10814719 |
10 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Male |
Not Rett synd. |
849 |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 |
11 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Not certain |
848 |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 |
12 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Not certain |
847 |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2:Amir, Ruthie E., Van den Veyver, Ignatia B., Wan, Mimi, Tran, Charles Q., Francke, Uta and Zoghbi, Huda Y.:Nature Genetics: 10508514 |
13 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Not certain |
1124 |
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.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Not certain |
1125 |
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 |
15 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Unknown |
Rett syndrome-Not certain |
1193 |
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 |
16 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Not certain |
1241 |
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 |
17 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
1576 |
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 |
18 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Male |
Rett syndrome-Not certain |
1640 |
:Bunyan, D.:: |
19 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Not Known |
1811 |
:Friez, Michael:: |
20 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Male |
Not Rett synd. |
1891 |
::: |
21 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Not Known |
2037 |
::: |
22 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Not Known |
2044 |
::: |
23 |
c.582C>T |
p.Ser194Ser |
Silent |
Inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-Congenital onset |
2401 |
::: |
24 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
2772 |
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 |
25 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Male |
Not Rett synd. |
3023 |
Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 |
26 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Male |
Not Rett synd. |
3024 |
Low frequency of MECP2 mutations in mentally retarded males:Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BBA, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, van Bokhoven H:European Journal of Human Genetics: 12111644 |
27 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Unknown |
Not Rett synd. |
4200 |
Absence of MECP2 mutations in patients from the South Carolina autism project:Lobo-Menendez, F., Sossey-Alaoui, K., Bell, J.M., Copeland-Yates, S.A., Plank, S.M., Sanford, S.O., Skinner, C., Simensen, R.J., Schroer, R.J., Michaelis, R.C.:American Journal of Medical Genetics Part B: 12555243 |
28 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-not certain |
4273 |
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 |
29 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
4375 |
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 |
30 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Unknown |
Not Rett synd. |
4627 |
Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760 |
31 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Unknown |
Not Rett synd. |
4628 |
Systematic sequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia:Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thbodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A.:Molecular Psychiatry: 20479760 |
32 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-not certain |
4750 |
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 |
33 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-not certain |
5070 |
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 |
34 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Female |
Rett syndrome-not certain |
5186 |
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 |
35 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Unknown |
Not Rett synd. |
5187 |
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 |
36 |
c.582C>T |
p.Ser194Ser |
silent |
inter-domain region |
Silent polymorphism |
Unknown |
Not Rett synd. |
5188 |
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 |
37 |
c.582C>T |
|
silent |
inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
6853 |
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 |
38 |
c.582C>T |
|
silent |
inter-domain region |
Silent polymorphism |
Female |
Not Rett synd. |
6854 |
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 |