Variant information


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

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
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 View details
2 c.590C>T p.Thr197Met Male Not Rett synd. 373 ::: View details
3 c.590C>T p.Thr197Met Female Not Rett synd. 375 ::: View details
4 c.590C>T p.Thr197Met Female Not Rett synd. 376 ::: View details
5 c.590C>T p.Thr197Met Male 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 View details
6 c.590C>T p.Thr197Met Female 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 View details
7 c.590C>T p.Thr197Met Female Not Known 2124 :Cardiff, UK:: View details
8 c.590C>T p.Thr197Met Male 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-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 View details
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 View details
10 c.590C>T p.Thr197Met Female 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-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 View details
11 c.590C>T p.Thr197Met Male 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-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 View details
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 View details
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 View details
14 c.590C>T p.Thr197Met Female Not Rett synd. 6908 ::: View details