Proband information
Proband id | 3938 |
---|---|
Systematic Name (NM_004992.3:) |
c.590C>T |
Protein name (NP_004983) |
p.Thr197Met |
Alternate systematic Name (NM_001110792.1:) |
c.626C>T |
Alternate Protein name (NP_001104262) |
p.(Thr209Met) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296689G>A |
Mutation type | missense |
Domain | inter-domain region |
Pathogenicity | Polymorphism not causing disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons1, 3-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | presence in mother and normal brother |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Not Rett synd.-unaffected family member |
Reference | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.590C>T | p.Thr197Met | Female | Rett syndrome-Not certain | 46 | 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 | |
2 | c.590C>T | p.Thr197Met | Male | Relative of proband | Not Rett synd. | 373 | ::: |
3 | c.590C>T | p.Thr197Met | Female | Relative of proband | Not Rett synd. | 375 | ::: |
4 | c.590C>T | p.Thr197Met | Female | Relative of proband | Not Rett synd. | 376 | ::: |
5 | c.590C>T | p.Thr197Met | Male | Unaffected mother is carrier | Not Rett synd. | 1534 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
6 | c.590C>T | p.Thr197Met | Female | Relative of proband | Not Rett synd. | 1535 | MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution:Laccone, F., Zoll, B., Huppke, P., Hanefeld, F., Pepinski, W. and Trappe, R.:Journal of Medical Genetics: 12161600 |
7 | c.590C>T | p.Thr197Met | Female | Not Known | 2124 | :Cardiff, UK:: | |
8 | c.590C>T | p.Thr197Met | Male | presence in mother and normal brother | Not Rett synd. | 2747 | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
9 | c.590C>T | p.Thr197Met | Female | Rett syndrome-not certain | 3515 | 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 | |
10 | c.590C>T | p.Thr197Met | Female | presence in mother and normal brother | Not Rett synd. | 3938 | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
11 | c.590C>T | p.Thr197Met | Male | presence in mother and normal brother | Not Rett synd. | 3939 | Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Rebouças, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 |
12 | c.590C>T | p.Thr197Met | Female | Rett syndrome-classical | 4858 | 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 | |
13 | c.590C>T | p.Thr197Met | Male | Not Rett synd. | 5076 | Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients:Wang, S.M., Li, M., Yang, Y.L., Pan, H., Liu, J., Pan, K.F., Bu, D.F.:Journal of Peking University (Health Sciences): 23591336 | |
14 | c.590C>T | p.Thr197Met | Female | Not Rett synd. | 6908 | ::: |