Proband information


Proband id 1534
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 109 chromosomes tested and not found in 109 chromosomes
Detection Not known
Extent Not known
Source of DNA Not known
Carrier Y
Carrier result Unaffected mother is carrier
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial Not known
Phenotype-class Not Rett synd.-not certain
Reference 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

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 :::